Canonical Allele Identifier: CA257814770
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 675325
ClinVar RCV Id: RCV000834679
dbSNP Id: rs186111066
gnomAD v2: 14-23888580-G-A
gnomAD v3: 14-23419371-G-A
gnomAD v4: 14-23419371-G-A
MyVariant Identifiers: chr14:g.23888580G>A (hg19) chr14:g.23419371G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419371G>A , CM000676.2:g.23419371G>A GRCh38
NC_000014.8:g.23888580G>A , CM000676.1:g.23888580G>A GRCh37
NC_000014.7:g.22958420G>A NCBI36
NG_007884.1:g.21291C>T , LRG_384:g.21291C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3854-76C>T MANE Select ENSP00000347507.3:n.3854-76C>T
ENST00000355349.3:c.3854-76C>T ENSP00000347507.3:n.3854-76C>T
NM_000257.3:c.3854-76C>T NP_000248.2:n.3854-76C>T
XM_017021340.1:c.3854-76C>T XP_016876829.1:n.3854-76C>T
NM_000257.4:c.3854-76C>T MANE Select NP_000248.2:n.3854-76C>T
Search 100 bp 5'
Search 100 bp 3'