Canonical Allele Identifier: CA8120910
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1772473
ClinVar RCV Id: RCV002392035
dbSNP Id: rs749186904
ExAC: 16:67974095 C / G
gnomAD v2: 16-67974095-C-G
gnomAD v4: 16-67940192-C-G
MyVariant Identifiers: chr16:g.67974095C>G (hg19) chr16:g.67940192C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940192C>G , CM000678.2:g.67940192C>G GRCh38
NC_000016.9:g.67974095C>G , CM000678.1:g.67974095C>G GRCh37
NC_000016.8:g.66531596C>G NCBI36
NG_009778.1:g.8921G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1035G>C MANE Select ENSP00000264005.5:p.Thr345=
ENST00000264005.9:c.1035G>C ENSP00000264005.5:p.Thr345=
ENST00000570369.5:c.156-118G>C
ENST00000573538.5:c.773G>C ENSP00000463220.1:n.773G>C
NM_000229.1:c.1035G>C NP_000220.1:p.Thr345=
NM_000229.2:c.1035G>C MANE Select NP_000220.1:p.Thr345=
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