Canonical Allele Identifier: CA8120890

Gene: LCAT

Linked Data

• ClinVar Variation Id: 887806
• ClinVar RCV Id: RCV001120752 ; RCV002436713
• dbSNP Id: rs368689576
• ExAC: 16:67974017 C / T
• gnomAD v2: 16-67974017-C-T
• gnomAD v3: 16-67940114-C-T
• gnomAD v4: 16-67940114-C-T
• MyVariant Identifiers: chr16:g.67974017C>T (hg19) ; chr16:g.67940114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940114C>T , CM000678.2:g.67940114C>T	GRCh38
NC_000016.9:g.67974017C>T , CM000678.1:g.67974017C>T	GRCh37
NC_000016.8:g.66531518C>T	NCBI36
NG_009778.1:g.8999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1113G>A MANE Select	ENSP00000264005.5:p.Thr371=
ENST00000264005.9:c.1113G>A	ENSP00000264005.5:p.Thr371=
ENST00000570369.5:c.156-40G>A
ENST00000573538.5:c.851G>A	ENSP00000463220.1:n.851G>A
NM_000229.1:c.1113G>A	NP_000220.1:p.Thr371=
NM_000229.2:c.1113G>A MANE Select	NP_000220.1:p.Thr371=