Canonical Allele Identifier: CA8120889
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 887805
ClinVar RCV Id: RCV001120751
dbSNP Id: rs756113909
ExAC: 16:67974012 G / A
gnomAD v2: 16-67974012-G-A
gnomAD v3: 16-67940109-G-A
gnomAD v4: 16-67940109-G-A
COSMIC: COSM5703138
MyVariant Identifiers: chr16:g.67974012G>A (hg19) chr16:g.67940109G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940109G>A , CM000678.2:g.67940109G>A GRCh38
NC_000016.9:g.67974012G>A , CM000678.1:g.67974012G>A GRCh37
NC_000016.8:g.66531513G>A NCBI36
NG_009778.1:g.9004C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1118C>T MANE Select ENSP00000264005.5:p.Ala373Val
ENST00000264005.9:c.1118C>T ENSP00000264005.5:p.Ala373Val
ENST00000570369.5:c.156-35C>T
ENST00000573538.5:c.856C>T ENSP00000463220.1:n.856C>T
NM_000229.1:c.1118C>T NP_000220.1:p.Ala373Val
NM_000229.2:c.1118C>T MANE Select NP_000220.1:p.Ala373Val
Search 100 bp 5'
Search 100 bp 3'