Canonical Allele Identifier: CA496384130
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2567127
ClinVar RCV Id: RCV003311088
dbSNP Id: rs1287130448

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940309A>G , CM000678.2:g.67940309A>G GRCh38
NC_000016.9:g.67974212A>G , CM000678.1:g.67974212A>G GRCh37
NC_000016.8:g.66531713A>G NCBI36
NG_009778.1:g.8804T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.918T>C MANE Select ENSP00000264005.5:p.Phe306=
ENST00000264005.9:c.918T>C ENSP00000264005.5:p.Phe306=
ENST00000570369.5:c.156-235T>C
ENST00000570980.1:c.702T>C ENSP00000464651.1:p.Phe234=
ENST00000573538.5:c.656T>C ENSP00000463220.1:n.656T>C
NM_000229.1:c.918T>C NP_000220.1:p.Phe306=
NM_000229.2:c.918T>C MANE Select NP_000220.1:p.Phe306=