Canonical Allele Identifier: CA8120869
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1447512
ClinVar RCV Id: RCV002011917 RCV002507671 RCV002334959
dbSNP Id: rs772313264
ExAC: 16:67973938 C / T
gnomAD v2: 16-67973938-C-T
gnomAD v3: 16-67940035-C-T
gnomAD v4: 16-67940035-C-T
MyVariant Identifiers: chr16:g.67973938C>T (hg19) chr16:g.67940035C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940035C>T , CM000678.2:g.67940035C>T GRCh38
NC_000016.9:g.67973938C>T , CM000678.1:g.67973938C>T GRCh37
NC_000016.8:g.66531439C>T NCBI36
NG_009778.1:g.9078G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1192G>A MANE Select ENSP00000264005.5:p.Gly398Arg
ENST00000264005.9:c.1192G>A ENSP00000264005.5:p.Gly398Arg
ENST00000570369.5:c.195G>A
ENST00000573538.5:c.930G>A ENSP00000463220.1:n.930G>A
NM_000229.1:c.1192G>A NP_000220.1:p.Gly398Arg
NM_000229.2:c.1192G>A MANE Select NP_000220.1:p.Gly398Arg
Search 100 bp 5'
Search 100 bp 3'