Canonical Allele Identifier: CA8120959
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs748370146
ExAC: 16:67974351 C / T
gnomAD v2: 16-67974351-C-T
gnomAD v4: 16-67940448-C-T
MyVariant Identifiers: chr16:g.67974351C>T (hg19) chr16:g.67940448C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940448C>T , CM000678.2:g.67940448C>T GRCh38
NC_000016.9:g.67974351C>T , CM000678.1:g.67974351C>T GRCh37
NC_000016.8:g.66531852C>T NCBI36
NG_009778.1:g.8665G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.779G>A MANE Select ENSP00000264005.5:p.Ser260Asn
ENST00000264005.9:c.779G>A ENSP00000264005.5:p.Ser260Asn
ENST00000570369.5:c.156-374G>A
ENST00000570980.1:c.563G>A ENSP00000464651.1:p.Ser188Asn
ENST00000573538.5:c.517G>A ENSP00000463220.1:n.517G>A
NM_000229.1:c.779G>A NP_000220.1:p.Ser260Asn
NM_000229.2:c.779G>A MANE Select NP_000220.1:p.Ser260Asn
Search 100 bp 5'
Search 100 bp 3'