Canonical Allele Identifier: CA389052164
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 454395
dbSNP Id: rs1555338658

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431583A>C , CM000676.2:g.23431583A>C GRCh38
NC_000014.8:g.23900792A>C , CM000676.1:g.23900792A>C GRCh37
NC_000014.7:g.22970632A>C NCBI36
NG_007884.1:g.9079T>G , LRG_384:g.9079T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.732+2T>G MANE Select ENSP00000347507.3:n.732+2T>G
ENST00000355349.3:c.732+2T>G ENSP00000347507.3:n.732+2T>G
NM_000257.3:c.732+2T>G NP_000248.2:n.732+2T>G
XR_245686.3:n.838+2T>G
XM_017021340.1:c.732+2T>G XP_016876829.1:n.732+2T>G
NM_000257.4:c.732+2T>G MANE Select NP_000248.2:n.732+2T>G