Canonical Allele Identifier: CA8120898
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1426099
ClinVar RCV Id: RCV001957579 RCV004044300
dbSNP Id: rs199711526
ExAC: 16:67974052 G / T
gnomAD v2: 16-67974052-G-T
gnomAD v3: 16-67940149-G-T
gnomAD v4: 16-67940149-G-T
MyVariant Identifiers: chr16:g.67974052G>T (hg19) chr16:g.67940149G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940149G>T , CM000678.2:g.67940149G>T GRCh38
NC_000016.9:g.67974052G>T , CM000678.1:g.67974052G>T GRCh37
NC_000016.8:g.66531553G>T NCBI36
NG_009778.1:g.8964C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1078C>A MANE Select ENSP00000264005.5:p.Pro360Thr
ENST00000264005.9:c.1078C>A ENSP00000264005.5:p.Pro360Thr
ENST00000570369.5:c.156-75C>A
ENST00000573538.5:c.816C>A ENSP00000463220.1:n.816C>A
NM_000229.1:c.1078C>A NP_000220.1:p.Pro360Thr
NM_000229.2:c.1078C>A MANE Select NP_000220.1:p.Pro360Thr
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