Canonical Allele Identifier: CA485616080
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1662923540
MyVariant Identifiers: chr14:g.23882992G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413783G>C , CM000676.2:g.23413783G>C GRCh38
NC_000014.8:g.23882992G>C , CM000676.1:g.23882992G>C GRCh37
NC_000014.7:g.22952832G>C NCBI36
NG_007884.1:g.26879C>G , LRG_384:g.26879C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5766C>G MANE Select ENSP00000347507.3:p.Ala1922=
ENST00000355349.3:c.5766C>G ENSP00000347507.3:p.Ala1922=
NM_000257.3:c.5766C>G NP_000248.2:p.Ala1922=
XM_017021340.1:c.5766C>G XP_016876829.1:p.Ala1922=
NM_000257.4:c.5766C>G MANE Select NP_000248.2:p.Ala1922=
Search 100 bp 5'
Search 100 bp 3'