Canonical Allele Identifier: CA978461321

Gene: LCAT

Linked Data

• dbSNP Id: rs2058299194
• gnomAD v3: 16-67942773-G-T
• gnomAD v4: 16-67942773-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942773G>T , CM000678.2:g.67942773G>T	GRCh38
NC_000016.9:g.67976676G>T , CM000678.1:g.67976676G>T	GRCh37
NC_000016.8:g.66534177G>T	NCBI36
NG_009778.1:g.6340C>A
NG_033098.1:g.30922C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264005.10:c.428-7C>A MANE Select	ENSP00000264005.5:n.428-7C>A
ENST00000264005.9:c.428-7C>A	ENSP00000264005.5:n.428-7C>A
ENST00000570369.5:c.155+88C>A
ENST00000570980.1:c.212-7C>A	ENSP00000464651.1:n.212-7C>A
ENST00000573538.5:c.71-7C>A	ENSP00000463220.1:n.71-7C>A
ENST00000573846.1:n.42-7C>A
ENST00000575277.1:n.206-7C>A
ENST00000575467.5:c.*123-7C>A	ENSP00000460653.1:n.*123-7C>A
NM_000229.1:c.428-7C>A	NP_000220.1:n.428-7C>A
NM_000229.2:c.428-7C>A MANE Select	NP_000220.1:n.428-7C>A