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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:
CA016328
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14121
ClinVar RCV Id:
RCV000015178
RCV000156689
RCV000766473
RCV001068554
RCV002482868
dbSNP Id:
rs121913652
gnomAD v2:
14-23883224-C-T
gnomAD v3:
14-23414015-C-T
gnomAD v4:
14-23414015-C-T
COSMIC:
COSM4552591
MyVariant Identifiers:
chr14:g.23883224C>T (hg19)
chr14:g.23414015C>T (hg38)
ERepo:
CA016328/MONDO:0005045/002
PubMed:
PMID:17372140
PMID:19336582
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23414015C>T , CM000676.2:g.23414015C>T
GRCh38
NC_000014.8:g.23883224C>T , CM000676.1:g.23883224C>T
GRCh37
NC_000014.7:g.22953064C>T
NCBI36
NG_007884.1:g.26647G>A , LRG_384:g.26647G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.5647G>A
MANE Select
ENSP00000347507.3:p.Glu1883Lys
ENST00000355349.3:c.5647G>A
ENSP00000347507.3:p.Glu1883Lys
NM_000257.3:c.5647G>A
NP_000248.2:p.Glu1883Lys
XM_017021340.1:c.5647G>A
XP_016876829.1:p.Glu1883Lys
NM_000257.4:c.5647G>A
MANE Select
NP_000248.2:p.Glu1883Lys
Search 100 bp 5'
Search 100 bp 3'