Canonical Allele Identifier: CA011391

Gene: MYH7

Linked Data

• ClinVar Variation Id: 180441
• ClinVar RCV Id: RCV000157367 ; RCV000505763 ; RCV001727609
• dbSNP Id: rs113186231
• ExAC: 14:23896793 C / T
• gnomAD v2: 14-23896793-C-T
• gnomAD v4: 14-23427584-C-T
• MyVariant Identifiers: chr14:g.23896793C>T (hg19) ; chr14:g.23427584C>T (hg38)
• ERepo: CA011391/MONDO:0004994/002

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23427584C>T , CM000676.2:g.23427584C>T	GRCh38
NC_000014.8:g.23896793C>T , CM000676.1:g.23896793C>T	GRCh37
NC_000014.7:g.22966633C>T	NCBI36
NG_007884.1:g.13078G>A , LRG_384:g.13078G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.1888+1G>A MANE Select	ENSP00000347507.3:n.1888+1G>A
ENST00000355349.3:c.1888+1G>A	ENSP00000347507.3:n.1888+1G>A
NM_000257.3:c.1888+1G>A	NP_000248.2:n.1888+1G>A
XR_245686.3:n.1994+1G>A
XM_017021340.1:c.1888+1G>A	XP_016876829.1:n.1888+1G>A
NM_000257.4:c.1888+1G>A MANE Select	NP_000248.2:n.1888+1G>A