Canonical Allele Identifier: CA283161363
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs943914723
gnomAD v2: 16-67974711-A-G
gnomAD v3: 16-67940808-A-G
gnomAD v4: 16-67940808-A-G
MyVariant Identifiers: chr16:g.67974711A>G (hg19) chr16:g.67940808A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940808A>G , CM000678.2:g.67940808A>G GRCh38
NC_000016.9:g.67974711A>G , CM000678.1:g.67974711A>G GRCh37
NC_000016.8:g.66532212A>G NCBI36
NG_009778.1:g.8305T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-330T>C MANE Select ENSP00000264005.5:n.749-330T>C
ENST00000264005.9:c.749-330T>C ENSP00000264005.5:n.749-330T>C
ENST00000570369.5:c.156-734T>C
ENST00000570980.1:c.533-330T>C ENSP00000464651.1:n.533-330T>C
ENST00000573538.5:c.415T>C ENSP00000463220.1:p.Ter139Gln
NM_000229.1:c.749-330T>C NP_000220.1:n.749-330T>C
NM_000229.2:c.749-330T>C MANE Select NP_000220.1:n.749-330T>C
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