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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA010543
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14122
ClinVar RCV Id:
RCV000035714
RCV000192200
RCV000767122
RCV000777877
RCV000989191
RCV001087154
RCV002496367
dbSNP Id:
rs121913653
ExAC:
14:23898249 G / A
gnomAD v2:
14-23898249-G-A
gnomAD v3:
14-23429040-G-A
gnomAD v4:
14-23429040-G-A
MyVariant Identifiers:
chr14:g.23898249G>A (hg19)
chr14:g.23429040G>A (hg38)
PubMed:
PMID:17548557
PMID:20301606
PMID:21426742
PMID:21811976
ERepo:
CA010543/MONDO:0004994/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23429040G>A , CM000676.2:g.23429040G>A
GRCh38
NC_000014.8:g.23898249G>A , CM000676.1:g.23898249G>A
GRCh37
NC_000014.7:g.22968089G>A
NCBI36
NG_007884.1:g.11622C>T , LRG_384:g.11622C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.1322C>T
MANE Select
ENSP00000347507.3:p.Thr441Met
ENST00000355349.3:c.1322C>T
ENSP00000347507.3:p.Thr441Met
NM_000257.3:c.1322C>T
NP_000248.2:p.Thr441Met
XR_245686.3:n.1428C>T
XM_017021340.1:c.1322C>T
XP_016876829.1:p.Thr441Met
NM_000257.4:c.1322C>T
MANE Select
NP_000248.2:p.Thr441Met
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