Canonical Allele Identifier: CA8121080
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2725189
ClinVar RCV Id: RCV003554486
dbSNP Id: rs368492194
ExAC: 16:67976679 G / T
gnomAD v2: 16-67976679-G-T
gnomAD v3: 16-67942776-G-T
gnomAD v4: 16-67942776-G-T
MyVariant Identifiers: chr16:g.67976679G>T (hg19) chr16:g.67942776G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942776G>T , CM000678.2:g.67942776G>T GRCh38
NC_000016.9:g.67976679G>T , CM000678.1:g.67976679G>T GRCh37
NC_000016.8:g.66534180G>T NCBI36
NG_009778.1:g.6337C>A
NG_033098.1:g.30919C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.428-10C>A MANE Select ENSP00000264005.5:n.428-10C>A
ENST00000264005.9:c.428-10C>A ENSP00000264005.5:n.428-10C>A
ENST00000570369.5:c.155+85C>A
ENST00000570980.1:c.212-10C>A ENSP00000464651.1:n.212-10C>A
ENST00000573538.5:c.71-10C>A ENSP00000463220.1:n.71-10C>A
ENST00000573846.1:n.42-10C>A
ENST00000575277.1:n.206-10C>A
ENST00000575467.5:c.*123-10C>A ENSP00000460653.1:n.*123-10C>A
NM_000229.1:c.428-10C>A NP_000220.1:n.428-10C>A
NM_000229.2:c.428-10C>A MANE Select NP_000220.1:n.428-10C>A
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