Canonical Allele Identifier: CA116425
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 3670
ClinVar RCV Id: RCV000003855
dbSNP Id: rs28940888

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940193G>A , CM000678.2:g.67940193G>A GRCh38
NC_000016.9:g.67974096G>A , CM000678.1:g.67974096G>A GRCh37
NC_000016.8:g.66531597G>A NCBI36
NG_009778.1:g.8920C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1034C>T MANE Select ENSP00000264005.5:p.Thr345Met
ENST00000264005.9:c.1034C>T ENSP00000264005.5:p.Thr345Met
ENST00000570369.5:c.156-119C>T
ENST00000573538.5:c.772C>T ENSP00000463220.1:n.772C>T
NM_000229.1:c.1034C>T NP_000220.1:p.Thr345Met
NM_000229.2:c.1034C>T MANE Select NP_000220.1:p.Thr345Met