Canonical Allele Identifier: CA389043998
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23889376A>T (hg19) chr14:g.23420167A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420167A>T , CM000676.2:g.23420167A>T GRCh38
NC_000014.8:g.23889376A>T , CM000676.1:g.23889376A>T GRCh37
NC_000014.7:g.22959216A>T NCBI36
NG_007884.1:g.20495T>A , LRG_384:g.20495T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3404T>A MANE Select ENSP00000347507.3:p.Leu1135Gln
ENST00000355349.3:c.3404T>A ENSP00000347507.3:p.Leu1135Gln
NM_000257.3:c.3404T>A NP_000248.2:p.Leu1135Gln
XR_245686.3:n.3512T>A
XM_017021340.1:c.3404T>A XP_016876829.1:p.Leu1135Gln
NM_000257.4:c.3404T>A MANE Select NP_000248.2:p.Leu1135Gln
Search 100 bp 5'
Search 100 bp 3'