Canonical Allele Identifier: CA8120861
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs767963075
ExAC: 16:67973862 C / T
gnomAD v2: 16-67973862-C-T
gnomAD v4: 16-67939959-C-T
MyVariant Identifiers: chr16:g.67973862C>T (hg19) chr16:g.67939959C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939959C>T , CM000678.2:g.67939959C>T GRCh38
NC_000016.9:g.67973862C>T , CM000678.1:g.67973862C>T GRCh37
NC_000016.8:g.66531363C>T NCBI36
NG_009778.1:g.9154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1268G>A MANE Select ENSP00000264005.5:p.Arg423His
ENST00000264005.9:c.1268G>A ENSP00000264005.5:p.Arg423His
ENST00000570369.5:c.271G>A
ENST00000573538.5:c.1006G>A ENSP00000463220.1:n.1006G>A
NM_000229.1:c.1268G>A NP_000220.1:p.Arg423His
NM_000229.2:c.1268G>A MANE Select NP_000220.1:p.Arg423His
Search 100 bp 5'
Search 100 bp 3'