Canonical Allele Identifier: CA283160393
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 3230696
ClinVar RCV Id: RCV004522811
dbSNP Id: rs1012071419
gnomAD v4: 16-67940039-C-T
MyVariant Identifiers: chr16:g.67973942C>T (hg19) chr16:g.67940039C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940039C>T , CM000678.2:g.67940039C>T GRCh38
NC_000016.9:g.67973942C>T , CM000678.1:g.67973942C>T GRCh37
NC_000016.8:g.66531443C>T NCBI36
NG_009778.1:g.9074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1188G>A MANE Select ENSP00000264005.5:p.Leu396=
ENST00000264005.9:c.1188G>A ENSP00000264005.5:p.Leu396=
ENST00000570369.5:c.191G>A
ENST00000573538.5:c.926G>A ENSP00000463220.1:n.926G>A
NM_000229.1:c.1188G>A NP_000220.1:p.Leu396=
NM_000229.2:c.1188G>A MANE Select NP_000220.1:p.Leu396=
Search 100 bp 5'
Search 100 bp 3'