Canonical Allele Identifier: CA396376032
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs777417745
gnomAD v2: 16-67974196-C-T
gnomAD v3: 16-67940293-C-T
gnomAD v4: 16-67940293-C-T
MyVariant Identifiers: chr16:g.67974196C>T (hg19) chr16:g.67940293C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940293C>T , CM000678.2:g.67940293C>T GRCh38
NC_000016.9:g.67974196C>T , CM000678.1:g.67974196C>T GRCh37
NC_000016.8:g.66531697C>T NCBI36
NG_009778.1:g.8820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.934G>A MANE Select ENSP00000264005.5:p.Glu312Lys
ENST00000264005.9:c.934G>A ENSP00000264005.5:p.Glu312Lys
ENST00000570369.5:c.156-219G>A
ENST00000570980.1:c.718G>A ENSP00000464651.1:p.Glu240Lys
ENST00000573538.5:c.672G>A ENSP00000463220.1:n.672G>A
NM_000229.1:c.934G>A NP_000220.1:p.Glu312Lys
NM_000229.2:c.934G>A MANE Select NP_000220.1:p.Glu312Lys
Search 100 bp 5'
Search 100 bp 3'