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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:
CA16606824
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393021
ClinVar RCV Id:
RCV000443440
RCV000463059
dbSNP Id:
rs727503272
MyVariant Identifiers:
chr14:g.23899119C>G (hg19)
chr14:g.23429910C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23429910C>G , CM000676.2:g.23429910C>G
GRCh38
NC_000014.8:g.23899119C>G , CM000676.1:g.23899119C>G
GRCh37
NC_000014.7:g.22968959C>G
NCBI36
NG_007884.1:g.10752G>C , LRG_384:g.10752G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355349.4:c.1003G>C
MANE Select
ENSP00000347507.3:p.Ala335Pro
ENST00000355349.3:c.1003G>C
ENSP00000347507.3:p.Ala335Pro
NM_000257.3:c.1003G>C
NP_000248.2:p.Ala335Pro
XR_245686.3:n.1109G>C
XM_017021340.1:c.1003G>C
XP_016876829.1:p.Ala335Pro
NM_000257.4:c.1003G>C
MANE Select
NP_000248.2:p.Ala335Pro
Search 100 bp 5'
Search 100 bp 3'