Canonical Allele Identifier: CA496384048

Gene: LCAT

Linked Data

• dbSNP Id: rs2058285952
• gnomAD v4: 16-67940426-C-T
• MyVariant Identifiers: chr16:g.67974329C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940426C>T , CM000678.2:g.67940426C>T	GRCh38
NC_000016.9:g.67974329C>T , CM000678.1:g.67974329C>T	GRCh37
NC_000016.8:g.66531830C>T	NCBI36
NG_009778.1:g.8687G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.801G>A MANE Select	ENSP00000264005.5:p.Gln267=
ENST00000264005.9:c.801G>A	ENSP00000264005.5:p.Gln267=
ENST00000570369.5:c.156-352G>A
ENST00000570980.1:c.585G>A	ENSP00000464651.1:p.Gln195=
ENST00000573538.5:c.539G>A	ENSP00000463220.1:n.539G>A
NM_000229.1:c.801G>A	NP_000220.1:p.Gln267=
NM_000229.2:c.801G>A MANE Select	NP_000220.1:p.Gln267=