Canonical Allele Identifier: CA047949

Gene: MYH7

Linked Data

• ClinVar Variation Id: 525107
• ClinVar RCV Id: RCV000629131 ; RCV002343192
• dbSNP Id: rs540350007
• ExAC: 14:23883094 T / C
• gnomAD v2: 14-23883094-T-C
• gnomAD v3: 14-23413885-T-C
• gnomAD v4: 14-23413885-T-C
• MyVariant Identifiers: chr14:g.23883094T>C (hg19) ; chr14:g.23413885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23413885T>C , CM000676.2:g.23413885T>C	GRCh38
NC_000014.8:g.23883094T>C , CM000676.1:g.23883094T>C	GRCh37
NC_000014.7:g.22952934T>C	NCBI36
NG_007884.1:g.26777A>G , LRG_384:g.26777A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5664A>G MANE Select	ENSP00000347507.3:p.Gln1888=
ENST00000355349.3:c.5664A>G	ENSP00000347507.3:p.Gln1888=
NM_000257.3:c.5664A>G	NP_000248.2:p.Gln1888=
XM_017021340.1:c.5664A>G	XP_016876829.1:p.Gln1888=
NM_000257.4:c.5664A>G MANE Select	NP_000248.2:p.Gln1888=