Canonical Allele Identifier: CA396375421
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1525388
ClinVar RCV Id: RCV002036648
dbSNP Id: rs1343203166
gnomAD v2: 16-67973904-A-G
gnomAD v4: 16-67940001-A-G
MyVariant Identifiers: chr16:g.67973904A>G (hg19) chr16:g.67940001A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940001A>G , CM000678.2:g.67940001A>G GRCh38
NC_000016.9:g.67973904A>G , CM000678.1:g.67973904A>G GRCh37
NC_000016.8:g.66531405A>G NCBI36
NG_009778.1:g.9112T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1226T>C MANE Select ENSP00000264005.5:p.Leu409Pro
ENST00000264005.9:c.1226T>C ENSP00000264005.5:p.Leu409Pro
ENST00000570369.5:c.229T>C
ENST00000573538.5:c.964T>C ENSP00000463220.1:n.964T>C
NM_000229.1:c.1226T>C NP_000220.1:p.Leu409Pro
NM_000229.2:c.1226T>C MANE Select NP_000220.1:p.Leu409Pro
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