Canonical Allele Identifier: CA8120872
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 320196
ClinVar RCV Id: RCV000387256 RCV001723909 RCV001730669 RCV002328832 RCV001730668
dbSNP Id: rs5923
ExAC: 16:67973953 G / A
gnomAD v2: 16-67973953-G-A
gnomAD v3: 16-67940050-G-A
gnomAD v4: 16-67940050-G-A
MyVariant Identifiers: chr16:g.67973953G>A (hg19) chr16:g.67940050G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940050G>A , CM000678.2:g.67940050G>A GRCh38
NC_000016.9:g.67973953G>A , CM000678.1:g.67973953G>A GRCh37
NC_000016.8:g.66531454G>A NCBI36
NG_009778.1:g.9063C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1177C>T MANE Select ENSP00000264005.5:p.Leu393=
ENST00000264005.9:c.1177C>T ENSP00000264005.5:p.Leu393=
ENST00000570369.5:c.180C>T
ENST00000573538.5:c.915C>T ENSP00000463220.1:n.915C>T
NM_000229.1:c.1177C>T NP_000220.1:p.Leu393=
NM_000229.2:c.1177C>T MANE Select NP_000220.1:p.Leu393=
Search 100 bp 5'
Search 100 bp 3'