Canonical Allele Identifier: CA8120912
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs771761885
ExAC: 16:67974099 G / T
gnomAD v2: 16-67974099-G-T
gnomAD v4: 16-67940196-G-T
MyVariant Identifiers: chr16:g.67974099G>T (hg19) chr16:g.67940196G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940196G>T , CM000678.2:g.67940196G>T GRCh38
NC_000016.9:g.67974099G>T , CM000678.1:g.67974099G>T GRCh37
NC_000016.8:g.66531600G>T NCBI36
NG_009778.1:g.8917C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1031C>A MANE Select ENSP00000264005.5:p.Pro344His
ENST00000264005.9:c.1031C>A ENSP00000264005.5:p.Pro344His
ENST00000570369.5:c.156-122C>A
ENST00000573538.5:c.769C>A ENSP00000463220.1:n.769C>A
NM_000229.1:c.1031C>A NP_000220.1:p.Pro344His
NM_000229.2:c.1031C>A MANE Select NP_000220.1:p.Pro344His
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