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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:
CA016441
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43088
ClinVar RCV Id:
RCV001329735
RCV002510774
RCV002513365
RCV003149624
dbSNP Id:
rs397516254
MyVariant Identifiers:
chr14:g.23883018C>T (hg19)
chr14:g.23413809C>T (hg38)
PubMed:
PMID:20301606
PMID:22464770
PMID:24503780
PMID:24664454
PMID:29300372
ERepo:
CA016441/MONDO:0005021/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23413809C>T , CM000676.2:g.23413809C>T
GRCh38
NC_000014.8:g.23883018C>T , CM000676.1:g.23883018C>T
GRCh37
NC_000014.7:g.22952858C>T
NCBI36
NG_007884.1:g.26853G>A , LRG_384:g.26853G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.5740G>A
MANE Select
ENSP00000347507.3:p.Glu1914Lys
ENST00000355349.3:c.5740G>A
ENSP00000347507.3:p.Glu1914Lys
NM_000257.3:c.5740G>A
NP_000248.2:p.Glu1914Lys
XM_017021340.1:c.5740G>A
XP_016876829.1:p.Glu1914Lys
NM_000257.4:c.5740G>A
MANE Select
NP_000248.2:p.Glu1914Lys
Search 100 bp 5'
Search 100 bp 3'