Canonical Allele Identifier: CA389050010
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3015244
ClinVar RCV Id: RCV003870851

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427777G>C , CM000676.2:g.23427777G>C GRCh38
NC_000014.8:g.23896986G>C , CM000676.1:g.23896986G>C GRCh37
NC_000014.7:g.22966826G>C NCBI36
NG_007884.1:g.12885C>G , LRG_384:g.12885C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1696C>G MANE Select ENSP00000347507.3:p.Pro566Ala
ENST00000355349.3:c.1696C>G ENSP00000347507.3:p.Pro566Ala
NM_000257.3:c.1696C>G NP_000248.2:p.Pro566Ala
XR_245686.3:n.1802C>G
XM_017021340.1:c.1696C>G XP_016876829.1:p.Pro566Ala
NM_000257.4:c.1696C>G MANE Select NP_000248.2:p.Pro566Ala