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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:
CA016810
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14099
ClinVar RCV Id:
RCV000015155
RCV000158764
RCV000693916
dbSNP Id:
rs121913633
gnomAD v3:
14-23431447-C-T
gnomAD v4:
14-23431447-C-T
COSMIC:
COSM3495248
MyVariant Identifiers:
chr14:g.23900656C>T (hg19)
chr14:g.23431447C>T (hg38)
PubMed:
PMID:7731997
PMID:8281650
PMID:8483915
PMID:9172070
PMID:12473556
PMID:20031618
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23431447C>T , CM000676.2:g.23431447C>T
GRCh38
NC_000014.8:g.23900656C>T , CM000676.1:g.23900656C>T
GRCh37
NC_000014.7:g.22970496C>T
NCBI36
NG_007884.1:g.9215G>A , LRG_384:g.9215G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.767G>A
MANE Select
ENSP00000347507.3:p.Gly256Glu
ENST00000355349.3:c.767G>A
ENSP00000347507.3:p.Gly256Glu
NM_000257.3:c.767G>A
NP_000248.2:p.Gly256Glu
XR_245686.3:n.873G>A
XM_017021340.1:c.767G>A
XP_016876829.1:p.Gly256Glu
NM_000257.4:c.767G>A
MANE Select
NP_000248.2:p.Gly256Glu
Search 100 bp 5'
Search 100 bp 3'