Canonical Allele Identifier: CA037156
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 407199
ClinVar RCV Id: RCV000469088 RCV000624367
dbSNP Id: rs767561318
ExAC: 14:23889404 G / A
gnomAD v2: 14-23889404-G-A
gnomAD v4: 14-23420195-G-A
MyVariant Identifiers: chr14:g.23889404G>A (hg19) chr14:g.23420195G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420195G>A , CM000676.2:g.23420195G>A GRCh38
NC_000014.8:g.23889404G>A , CM000676.1:g.23889404G>A GRCh37
NC_000014.7:g.22959244G>A NCBI36
NG_007884.1:g.20467C>T , LRG_384:g.20467C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3376C>T MANE Select ENSP00000347507.3:p.Arg1126Cys
ENST00000355349.3:c.3376C>T ENSP00000347507.3:p.Arg1126Cys
NM_000257.3:c.3376C>T NP_000248.2:p.Arg1126Cys
XR_245686.3:n.3484C>T
XM_017021340.1:c.3376C>T XP_016876829.1:p.Arg1126Cys
NM_000257.4:c.3376C>T MANE Select NP_000248.2:p.Arg1126Cys
Search 100 bp 5'
Search 100 bp 3'