Canonical Allele Identifier: CA8120868
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs748189948
ExAC: 16:67973930 C / A
gnomAD v2: 16-67973930-C-A
gnomAD v4: 16-67940027-C-A
MyVariant Identifiers: chr16:g.67973930C>A (hg19) chr16:g.67940027C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940027C>A , CM000678.2:g.67940027C>A GRCh38
NC_000016.9:g.67973930C>A , CM000678.1:g.67973930C>A GRCh37
NC_000016.8:g.66531431C>A NCBI36
NG_009778.1:g.9086G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1200G>T MANE Select ENSP00000264005.5:p.Gln400His
ENST00000264005.9:c.1200G>T ENSP00000264005.5:p.Gln400His
ENST00000570369.5:c.203G>T
ENST00000573538.5:c.938G>T ENSP00000463220.1:n.938G>T
NM_000229.1:c.1200G>T NP_000220.1:p.Gln400His
NM_000229.2:c.1200G>T MANE Select NP_000220.1:p.Gln400His
Search 100 bp 5'
Search 100 bp 3'