Canonical Allele Identifier: CA496383936
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1780700
ClinVar RCV Id: RCV002410293
dbSNP Id: rs1208786430
gnomAD v2: 16-67974068-G-A
gnomAD v3: 16-67940165-G-A
gnomAD v4: 16-67940165-G-A
COSMIC: COSM1379028
MyVariant Identifiers: chr16:g.67974068G>A (hg19) chr16:g.67940165G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940165G>A , CM000678.2:g.67940165G>A GRCh38
NC_000016.9:g.67974068G>A , CM000678.1:g.67974068G>A GRCh37
NC_000016.8:g.66531569G>A NCBI36
NG_009778.1:g.8948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1062C>T MANE Select ENSP00000264005.5:p.Gly354=
ENST00000264005.9:c.1062C>T ENSP00000264005.5:p.Gly354=
ENST00000570369.5:c.156-91C>T
ENST00000573538.5:c.800C>T ENSP00000463220.1:n.800C>T
NM_000229.1:c.1062C>T NP_000220.1:p.Gly354=
NM_000229.2:c.1062C>T MANE Select NP_000220.1:p.Gly354=
Search 100 bp 5'
Search 100 bp 3'