Canonical Allele Identifier: CA389050774
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072367
ClinVar RCV Id: RCV004012397

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428995A>G , CM000676.2:g.23428995A>G GRCh38
NC_000014.8:g.23898204A>G , CM000676.1:g.23898204A>G GRCh37
NC_000014.7:g.22968044A>G NCBI36
NG_007884.1:g.11667T>C , LRG_384:g.11667T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1367T>C MANE Select ENSP00000347507.3:p.Phe456Ser
ENST00000355349.3:c.1367T>C ENSP00000347507.3:p.Phe456Ser
NM_000257.3:c.1367T>C NP_000248.2:p.Phe456Ser
XR_245686.3:n.1473T>C
XM_017021340.1:c.1367T>C XP_016876829.1:p.Phe456Ser
NM_000257.4:c.1367T>C MANE Select NP_000248.2:p.Phe456Ser