Canonical Allele Identifier: CA116417
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 3659
ClinVar RCV Id: RCV000003844
dbSNP Id: rs121908049

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940471G>T , CM000678.2:g.67940471G>T GRCh38
NC_000016.9:g.67974374G>T , CM000678.1:g.67974374G>T GRCh37
NC_000016.8:g.66531875G>T NCBI36
NG_009778.1:g.8642C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.756C>A MANE Select ENSP00000264005.5:p.Asn252Lys
ENST00000264005.9:c.756C>A ENSP00000264005.5:p.Asn252Lys
ENST00000570369.5:c.156-397C>A
ENST00000570980.1:c.540C>A ENSP00000464651.1:p.Asn180Lys
ENST00000573538.5:c.494C>A ENSP00000463220.1:n.494C>A
NM_000229.1:c.756C>A NP_000220.1:p.Asn252Lys
NM_000229.2:c.756C>A MANE Select NP_000220.1:p.Asn252Lys