Canonical Allele Identifier: CA8120870
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1745003
ClinVar RCV Id: RCV002335711 RCV003903677
dbSNP Id: rs202010908
ExAC: 16:67973939 G / A
gnomAD v2: 16-67973939-G-A
gnomAD v3: 16-67940036-G-A
gnomAD v4: 16-67940036-G-A
MyVariant Identifiers: chr16:g.67973939G>A (hg19) chr16:g.67940036G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940036G>A , CM000678.2:g.67940036G>A GRCh38
NC_000016.9:g.67973939G>A , CM000678.1:g.67973939G>A GRCh37
NC_000016.8:g.66531440G>A NCBI36
NG_009778.1:g.9077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1191C>T MANE Select ENSP00000264005.5:p.His397=
ENST00000264005.9:c.1191C>T ENSP00000264005.5:p.His397=
ENST00000570369.5:c.194C>T
ENST00000573538.5:c.929C>T ENSP00000463220.1:n.929C>T
NM_000229.1:c.1191C>T NP_000220.1:p.His397=
NM_000229.2:c.1191C>T MANE Select NP_000220.1:p.His397=
Search 100 bp 5'
Search 100 bp 3'