Canonical Allele Identifier: CA389052543
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23901047T>C (hg19) chr14:g.23431838T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431838T>C , CM000676.2:g.23431838T>C GRCh38
NC_000014.8:g.23901047T>C , CM000676.1:g.23901047T>C GRCh37
NC_000014.7:g.22970887T>C NCBI36
NG_007884.1:g.8824A>G , LRG_384:g.8824A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.562A>G MANE Select ENSP00000347507.3:p.Thr188Ala
ENST00000355349.3:c.562A>G ENSP00000347507.3:p.Thr188Ala
NM_000257.3:c.562A>G NP_000248.2:p.Thr188Ala
XR_245686.3:n.668A>G
XM_017021340.1:c.562A>G XP_016876829.1:p.Thr188Ala
NM_000257.4:c.562A>G MANE Select NP_000248.2:p.Thr188Ala
Search 100 bp 5'
Search 100 bp 3'