Canonical Allele Identifier: CA396376190
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2567126
ClinVar RCV Id: RCV003278346
gnomAD v4: 16-67940364-A-G
MyVariant Identifiers: chr16:g.67974267A>G (hg19) chr16:g.67940364A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940364A>G , CM000678.2:g.67940364A>G GRCh38
NC_000016.9:g.67974267A>G , CM000678.1:g.67974267A>G GRCh37
NC_000016.8:g.66531768A>G NCBI36
NG_009778.1:g.8749T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.863T>C MANE Select ENSP00000264005.5:p.Val288Ala
ENST00000264005.9:c.863T>C ENSP00000264005.5:p.Val288Ala
ENST00000570369.5:c.156-290T>C
ENST00000570980.1:c.647T>C ENSP00000464651.1:p.Val216Ala
ENST00000573538.5:c.601T>C ENSP00000463220.1:n.601T>C
NM_000229.1:c.863T>C NP_000220.1:p.Val288Ala
NM_000229.2:c.863T>C MANE Select NP_000220.1:p.Val288Ala
Search 100 bp 5'
Search 100 bp 3'