Canonical Allele Identifier: CA389052546
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23901048G>T (hg19) chr14:g.23431839G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431839G>T , CM000676.2:g.23431839G>T GRCh38
NC_000014.8:g.23901048G>T , CM000676.1:g.23901048G>T GRCh37
NC_000014.7:g.22970888G>T NCBI36
NG_007884.1:g.8823C>A , LRG_384:g.8823C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.561C>A MANE Select ENSP00000347507.3:p.Asn187Lys
ENST00000355349.3:c.561C>A ENSP00000347507.3:p.Asn187Lys
NM_000257.3:c.561C>A NP_000248.2:p.Asn187Lys
XR_245686.3:n.667C>A
XM_017021340.1:c.561C>A XP_016876829.1:p.Asn187Lys
NM_000257.4:c.561C>A MANE Select NP_000248.2:p.Asn187Lys
Search 100 bp 5'
Search 100 bp 3'