Canonical Allele Identifier: CA389051075
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 524953
ClinVar RCV Id: RCV000628870
dbSNP Id: rs150885220
MyVariant Identifiers: chr14:g.23898465G>C (hg19) chr14:g.23429256G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429256G>C , CM000676.2:g.23429256G>C GRCh38
NC_000014.8:g.23898465G>C , CM000676.1:g.23898465G>C GRCh37
NC_000014.7:g.22968305G>C NCBI36
NG_007884.1:g.11406C>G , LRG_384:g.11406C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1230C>G MANE Select ENSP00000347507.3:p.Tyr410Ter
ENST00000355349.3:c.1230C>G ENSP00000347507.3:p.Tyr410Ter
NM_000257.3:c.1230C>G NP_000248.2:p.Tyr410Ter
XR_245686.3:n.1336C>G
XM_017021340.1:c.1230C>G XP_016876829.1:p.Tyr410Ter
NM_000257.4:c.1230C>G MANE Select NP_000248.2:p.Tyr410Ter
Search 100 bp 5'
Search 100 bp 3'