Canonical Allele Identifier: CA396376194

Gene: LCAT

Linked Data

• ClinVar Variation Id: 1764100
• ClinVar RCV Id: RCV002371172
• dbSNP Id: rs1478362225
• gnomAD v2: 16-67974268-C-T
• gnomAD v3: 16-67940365-C-T
• gnomAD v4: 16-67940365-C-T
• COSMIC: COSM4062019
• MyVariant Identifiers: chr16:g.67974268C>T (hg19) ; chr16:g.67940365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940365C>T , CM000678.2:g.67940365C>T	GRCh38
NC_000016.9:g.67974268C>T , CM000678.1:g.67974268C>T	GRCh37
NC_000016.8:g.66531769C>T	NCBI36
NG_009778.1:g.8748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.862G>A MANE Select	ENSP00000264005.5:p.Val288Met
ENST00000264005.9:c.862G>A	ENSP00000264005.5:p.Val288Met
ENST00000570369.5:c.156-291G>A
ENST00000570980.1:c.646G>A	ENSP00000464651.1:p.Val216Met
ENST00000573538.5:c.600G>A	ENSP00000463220.1:n.600G>A
NM_000229.1:c.862G>A	NP_000220.1:p.Val288Met
NM_000229.2:c.862G>A MANE Select	NP_000220.1:p.Val288Met