Canonical Allele Identifier: CA8120907
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1774013
ClinVar RCV Id: RCV002389930
dbSNP Id: rs368229427
ExAC: 16:67974090 C / T
gnomAD v2: 16-67974090-C-T
gnomAD v3: 16-67940187-C-T
gnomAD v4: 16-67940187-C-T
MyVariant Identifiers: chr16:g.67974090C>T (hg19) chr16:g.67940187C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940187C>T , CM000678.2:g.67940187C>T GRCh38
NC_000016.9:g.67974090C>T , CM000678.1:g.67974090C>T GRCh37
NC_000016.8:g.66531591C>T NCBI36
NG_009778.1:g.8926G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1040G>A MANE Select ENSP00000264005.5:p.Arg347His
ENST00000264005.9:c.1040G>A ENSP00000264005.5:p.Arg347His
ENST00000570369.5:c.156-113G>A
ENST00000573538.5:c.778G>A ENSP00000463220.1:n.778G>A
NM_000229.1:c.1040G>A NP_000220.1:p.Arg347His
NM_000229.2:c.1040G>A MANE Select NP_000220.1:p.Arg347His
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