Canonical Allele Identifier: CA012698
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177847
ClinVar RCV Id: RCV000475271 RCV000622129 RCV000766436 RCV001189962 RCV003314568
dbSNP Id: rs727504356
gnomAD v4: 14-23424846-C-G
MyVariant Identifiers: chr14:g.23894055C>G (hg19) chr14:g.23424846C>G (hg38)
ERepo: CA012698/MONDO:0005045/002
PubMed: PMID:20624503 PMID:20800588 PMID:27532257
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424846C>G , CM000676.2:g.23424846C>G GRCh38
NC_000014.8:g.23894055C>G , CM000676.1:g.23894055C>G GRCh37
NC_000014.7:g.22963895C>G NCBI36
NG_007884.1:g.15816G>C , LRG_384:g.15816G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2602G>C MANE Select ENSP00000347507.3:p.Ala868Pro
ENST00000355349.3:c.2602G>C ENSP00000347507.3:p.Ala868Pro
NM_000257.3:c.2602G>C NP_000248.2:p.Ala868Pro
XR_245686.3:n.2708G>C
XM_017021340.1:c.2602G>C XP_016876829.1:p.Ala868Pro
NM_000257.4:c.2602G>C MANE Select NP_000248.2:p.Ala868Pro
Search 100 bp 5'
Search 100 bp 3'