Canonical Allele Identifier: CA389052067
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23900642C>A (hg19) chr14:g.23431433C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431433C>A , CM000676.2:g.23431433C>A GRCh38
NC_000014.8:g.23900642C>A , CM000676.1:g.23900642C>A GRCh37
NC_000014.7:g.22970482C>A NCBI36
NG_007884.1:g.9229G>T , LRG_384:g.9229G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.781G>T MANE Select ENSP00000347507.3:p.Ala261Ser
ENST00000355349.3:c.781G>T ENSP00000347507.3:p.Ala261Ser
NM_000257.3:c.781G>T NP_000248.2:p.Ala261Ser
XR_245686.3:n.887G>T
XM_017021340.1:c.781G>T XP_016876829.1:p.Ala261Ser
NM_000257.4:c.781G>T MANE Select NP_000248.2:p.Ala261Ser
Search 100 bp 5'
Search 100 bp 3'