Canonical Allele Identifier: CA8120941
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1764260
ClinVar RCV Id: RCV002373357
dbSNP Id: rs761999436
ExAC: 16:67974263 G / T
gnomAD v2: 16-67974263-G-T
gnomAD v3: 16-67940360-G-T
gnomAD v4: 16-67940360-G-T
MyVariant Identifiers: chr16:g.67974263G>T (hg19) chr16:g.67940360G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940360G>T , CM000678.2:g.67940360G>T GRCh38
NC_000016.9:g.67974263G>T , CM000678.1:g.67974263G>T GRCh37
NC_000016.8:g.66531764G>T NCBI36
NG_009778.1:g.8753C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.867C>A MANE Select ENSP00000264005.5:p.Phe289Leu
ENST00000264005.9:c.867C>A ENSP00000264005.5:p.Phe289Leu
ENST00000570369.5:c.156-286C>A
ENST00000570980.1:c.651C>A ENSP00000464651.1:p.Phe217Leu
ENST00000573538.5:c.605C>A ENSP00000463220.1:n.605C>A
NM_000229.1:c.867C>A NP_000220.1:p.Phe289Leu
NM_000229.2:c.867C>A MANE Select NP_000220.1:p.Phe289Leu
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