Canonical Allele Identifier: CA048231
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs754705892
ExAC: 14:23882975 C / T
gnomAD v2: 14-23882975-C-T
gnomAD v4: 14-23413766-C-T
MyVariant Identifiers: chr14:g.23882975C>T (hg19) chr14:g.23413766C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413766C>T , CM000676.2:g.23413766C>T GRCh38
NC_000014.8:g.23882975C>T , CM000676.1:g.23882975C>T GRCh37
NC_000014.7:g.22952815C>T NCBI36
NG_007884.1:g.26896G>A , LRG_384:g.26896G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5783G>A MANE Select ENSP00000347507.3:p.Gly1928Asp
ENST00000355349.3:c.5783G>A ENSP00000347507.3:p.Gly1928Asp
NM_000257.3:c.5783G>A NP_000248.2:p.Gly1928Asp
XM_017021340.1:c.5783G>A XP_016876829.1:p.Gly1928Asp
NM_000257.4:c.5783G>A MANE Select NP_000248.2:p.Gly1928Asp
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