Canonical Allele Identifier: CA8120892
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs768470128
ExAC: 16:67974027 C / A
gnomAD v2: 16-67974027-C-A
gnomAD v3: 16-67940124-C-A
gnomAD v4: 16-67940124-C-A
MyVariant Identifiers: chr16:g.67974027C>A (hg19) chr16:g.67940124C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940124C>A , CM000678.2:g.67940124C>A GRCh38
NC_000016.9:g.67974027C>A , CM000678.1:g.67974027C>A GRCh37
NC_000016.8:g.66531528C>A NCBI36
NG_009778.1:g.8989G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1103G>T MANE Select ENSP00000264005.5:p.Gly368Val
ENST00000264005.9:c.1103G>T ENSP00000264005.5:p.Gly368Val
ENST00000570369.5:c.156-50G>T
ENST00000573538.5:c.841G>T ENSP00000463220.1:n.841G>T
NM_000229.1:c.1103G>T NP_000220.1:p.Gly368Val
NM_000229.2:c.1103G>T MANE Select NP_000220.1:p.Gly368Val
Search 100 bp 5'
Search 100 bp 3'