Canonical Allele Identifier: CA029572
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332027
ClinVar RCV Id: RCV001804543 RCV002541410
dbSNP Id: rs376572023
ExAC: 14:23896795 C / A
gnomAD v2: 14-23896795-C-A
gnomAD v3: 14-23427586-C-A
gnomAD v4: 14-23427586-C-A
COSMIC: COSM1163052
MyVariant Identifiers: chr14:g.23896795C>A (hg19) chr14:g.23427586C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427586C>A , CM000676.2:g.23427586C>A GRCh38
NC_000014.8:g.23896795C>A , CM000676.1:g.23896795C>A GRCh37
NC_000014.7:g.22966635C>A NCBI36
NG_007884.1:g.13076G>T , LRG_384:g.13076G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1887G>T MANE Select ENSP00000347507.3:p.Ala629=
ENST00000355349.3:c.1887G>T ENSP00000347507.3:p.Ala629=
NM_000257.3:c.1887G>T NP_000248.2:p.Ala629=
XR_245686.3:n.1993G>T
XM_017021340.1:c.1887G>T XP_016876829.1:p.Ala629=
NM_000257.4:c.1887G>T MANE Select NP_000248.2:p.Ala629=
Search 100 bp 5'
Search 100 bp 3'