Canonical Allele Identifier: CA16606829
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 387008
ClinVar RCV Id: RCV000437333 RCV001179853 RCV001506814
dbSNP Id: rs1057522662
gnomAD v4: 14-23431446-T-C
MyVariant Identifiers: chr14:g.23900655T>C (hg19) chr14:g.23431446T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431446T>C , CM000676.2:g.23431446T>C GRCh38
NC_000014.8:g.23900655T>C , CM000676.1:g.23900655T>C GRCh37
NC_000014.7:g.22970495T>C NCBI36
NG_007884.1:g.9216A>G , LRG_384:g.9216A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.768A>G MANE Select ENSP00000347507.3:p.Gly256=
ENST00000355349.3:c.768A>G ENSP00000347507.3:p.Gly256=
NM_000257.3:c.768A>G NP_000248.2:p.Gly256=
XR_245686.3:n.874A>G
XM_017021340.1:c.768A>G XP_016876829.1:p.Gly256=
NM_000257.4:c.768A>G MANE Select NP_000248.2:p.Gly256=
Search 100 bp 5'
Search 100 bp 3'