Canonical Allele Identifier: CA389047960
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395985
ClinVar RCV Id: RCV001919848
dbSNP Id: rs2138665540
MyVariant Identifiers: chr14:g.23894031T>G (hg19) chr14:g.23424822T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424822T>G , CM000676.2:g.23424822T>G GRCh38
NC_000014.8:g.23894031T>G , CM000676.1:g.23894031T>G GRCh37
NC_000014.7:g.22963871T>G NCBI36
NG_007884.1:g.15840A>C , LRG_384:g.15840A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2626A>C MANE Select ENSP00000347507.3:p.Lys876Gln
ENST00000355349.3:c.2626A>C ENSP00000347507.3:p.Lys876Gln
NM_000257.3:c.2626A>C NP_000248.2:p.Lys876Gln
XR_245686.3:n.2732A>C
XM_017021340.1:c.2626A>C XP_016876829.1:p.Lys876Gln
NM_000257.4:c.2626A>C MANE Select NP_000248.2:p.Lys876Gln
Search 100 bp 5'
Search 100 bp 3'