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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:
CA015861
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177846
ClinVar RCV Id:
RCV000154483
RCV000172890
RCV000208237
RCV000464078
RCV000577993
RCV000578027
RCV000578112
RCV000724585
RCV000769433
dbSNP Id:
rs727504355
ExAC:
14:23884476 C / T
gnomAD v2:
14-23884476-C-T
gnomAD v3:
14-23415267-C-T
gnomAD v4:
14-23415267-C-T
COSMIC:
COSM954739
MyVariant Identifiers:
chr14:g.23884476C>T (hg19)
chr14:g.23415267C>T (hg38)
PubMed:
PMID:22958901
PMID:24111713
PMID:24793961
PMID:25611685
PMID:27247418
PMID:27532257
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23415267C>T , CM000676.2:g.23415267C>T
GRCh38
NC_000014.8:g.23884476C>T , CM000676.1:g.23884476C>T
GRCh37
NC_000014.7:g.22954316C>T
NCBI36
NG_007884.1:g.25395G>A , LRG_384:g.25395G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.5287G>A
MANE Select
ENSP00000347507.3:p.Ala1763Thr
ENST00000355349.3:c.5287G>A
ENSP00000347507.3:p.Ala1763Thr
NM_000257.3:c.5287G>A
NP_000248.2:p.Ala1763Thr
XM_017021340.1:c.5287G>A
XP_016876829.1:p.Ala1763Thr
NM_000257.4:c.5287G>A
MANE Select
NP_000248.2:p.Ala1763Thr
Search 100 bp 5'
Search 100 bp 3'