Canonical Allele Identifier: CA257826779

Gene: MYH7

Linked Data

• ClinVar Variation Id: 674188
• ClinVar RCV Id: RCV000833500
• dbSNP Id: rs3729995
• gnomAD v2: 14-23902620-A-G
• gnomAD v3: 14-23433411-A-G
• gnomAD v4: 14-23433411-A-G
• MyVariant Identifiers: chr14:g.23902620A>G (hg19) ; chr14:g.23433411A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23433411A>G , CM000676.2:g.23433411A>G	GRCh38
NC_000014.8:g.23902620A>G , CM000676.1:g.23902620A>G	GRCh37
NC_000014.7:g.22972460A>G	NCBI36
NG_007884.1:g.7251T>C , LRG_384:g.7251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.201+121T>C MANE Select	ENSP00000347507.3:n.201+121T>C
ENST00000355349.3:c.201+121T>C	ENSP00000347507.3:n.201+121T>C
NM_000257.3:c.201+121T>C	NP_000248.2:n.201+121T>C
XR_245686.3:n.307+121T>C
XM_017021340.1:c.201+121T>C	XP_016876829.1:n.201+121T>C
NM_000257.4:c.201+121T>C MANE Select	NP_000248.2:n.201+121T>C