Canonical Allele Identifier: CA035354

Gene: MYH7

Linked Data

• ClinVar Variation Id: 697477
• ClinVar RCV Id: RCV000864361 ; RCV001182548 ; RCV001707856 ; RCV002442805
• dbSNP Id: rs150607954
• ExAC: 14:23892810 G / A
• gnomAD v2: 14-23892810-G-A
• gnomAD v3: 14-23423601-G-A
• gnomAD v4: 14-23423601-G-A
• MyVariant Identifiers: chr14:g.23892810G>A (hg19) ; chr14:g.23423601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423601G>A , CM000676.2:g.23423601G>A	GRCh38
NC_000014.8:g.23892810G>A , CM000676.1:g.23892810G>A	GRCh37
NC_000014.7:g.22962650G>A	NCBI36
NG_007884.1:g.17061C>T , LRG_384:g.17061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3045C>T MANE Select	ENSP00000347507.3:p.Asp1015=
ENST00000355349.3:c.3045C>T	ENSP00000347507.3:p.Asp1015=
NM_000257.3:c.3045C>T	NP_000248.2:p.Asp1015=
XR_245686.3:n.3151C>T
XM_017021340.1:c.3045C>T	XP_016876829.1:p.Asp1015=
NM_000257.4:c.3045C>T MANE Select	NP_000248.2:p.Asp1015=