Canonical Allele Identifier: CA8120899
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2452827
ClinVar RCV Id: RCV003177601
dbSNP Id: rs777035916
ExAC: 16:67974056 C / T
gnomAD v2: 16-67974056-C-T
gnomAD v3: 16-67940153-C-T
gnomAD v4: 16-67940153-C-T
MyVariant Identifiers: chr16:g.67974056C>T (hg19) chr16:g.67940153C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940153C>T , CM000678.2:g.67940153C>T GRCh38
NC_000016.9:g.67974056C>T , CM000678.1:g.67974056C>T GRCh37
NC_000016.8:g.66531557C>T NCBI36
NG_009778.1:g.8960G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1074G>A MANE Select ENSP00000264005.5:p.Thr358=
ENST00000264005.9:c.1074G>A ENSP00000264005.5:p.Thr358=
ENST00000570369.5:c.156-79G>A
ENST00000573538.5:c.812G>A ENSP00000463220.1:n.812G>A
NM_000229.1:c.1074G>A NP_000220.1:p.Thr358=
NM_000229.2:c.1074G>A MANE Select NP_000220.1:p.Thr358=
Search 100 bp 5'
Search 100 bp 3'