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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:
CA012936
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14125
ClinVar RCV Id:
RCV000015185
RCV000035817
RCV000158569
RCV000469895
RCV000617405
RCV000762923
RCV001181317
dbSNP Id:
rs267606908
gnomAD v2:
14-23893321-T-C
gnomAD v4:
14-23424112-T-C
MyVariant Identifiers:
chr14:g.23893321T>C (hg19)
chr14:g.23424112T>C (hg38)
ERepo:
CA012936/MONDO:0005045/002
PubMed:
PMID:12081993
PMID:15528230
PMID:16267253
PMID:18761664
PMID:21310275
PMID:23054336
PMID:24510615
PMID:24704860
PMID:25351510
PMID:26914223
PMID:27532257
PMID:28193612
PMID:28241245
PMID:28481356
PMID:28606303
PMID:29300372
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23424112T>C , CM000676.2:g.23424112T>C
GRCh38
NC_000014.8:g.23893321T>C , CM000676.1:g.23893321T>C
GRCh37
NC_000014.7:g.22963161T>C
NCBI36
NG_007884.1:g.16550A>G , LRG_384:g.16550A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2717A>G
MANE Select
ENSP00000347507.3:p.Asp906Gly
ENST00000355349.3:c.2717A>G
ENSP00000347507.3:p.Asp906Gly
NM_000257.3:c.2717A>G
NP_000248.2:p.Asp906Gly
XR_245686.3:n.2823A>G
XM_017021340.1:c.2717A>G
XP_016876829.1:p.Asp906Gly
NM_000257.4:c.2717A>G
MANE Select
NP_000248.2:p.Asp906Gly
Search 100 bp 5'
Search 100 bp 3'