Canonical Allele Identifier: CA8120949
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2452825
ClinVar RCV Id: RCV003177599
dbSNP Id: rs777491211
ExAC: 16:67974292 G / A
gnomAD v2: 16-67974292-G-A
gnomAD v3: 16-67940389-G-A
gnomAD v4: 16-67940389-G-A
MyVariant Identifiers: chr16:g.67974292G>A (hg19) chr16:g.67940389G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940389G>A , CM000678.2:g.67940389G>A GRCh38
NC_000016.9:g.67974292G>A , CM000678.1:g.67974292G>A GRCh37
NC_000016.8:g.66531793G>A NCBI36
NG_009778.1:g.8724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.838C>T MANE Select ENSP00000264005.5:p.Arg280Cys
ENST00000264005.9:c.838C>T ENSP00000264005.5:p.Arg280Cys
ENST00000570369.5:c.156-315C>T
ENST00000570980.1:c.622C>T ENSP00000464651.1:p.Arg208Cys
ENST00000573538.5:c.576C>T ENSP00000463220.1:n.576C>T
NM_000229.1:c.838C>T NP_000220.1:p.Arg280Cys
NM_000229.2:c.838C>T MANE Select NP_000220.1:p.Arg280Cys
Search 100 bp 5'
Search 100 bp 3'