Canonical Allele Identifier: CA257825799
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs113793327

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431415C>G , CM000676.2:g.23431415C>G GRCh38
NC_000014.8:g.23900624C>G , CM000676.1:g.23900624C>G GRCh37
NC_000014.7:g.22970464C>G NCBI36
NG_007884.1:g.9247G>C , LRG_384:g.9247G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.796+3G>C MANE Select ENSP00000347507.3:n.796+3G>C
ENST00000355349.3:c.796+3G>C ENSP00000347507.3:n.796+3G>C
NM_000257.3:c.796+3G>C NP_000248.2:n.796+3G>C
XR_245686.3:n.902+3G>C
XM_017021340.1:c.796+3G>C XP_016876829.1:n.796+3G>C
NM_000257.4:c.796+3G>C MANE Select NP_000248.2:n.796+3G>C