Canonical Allele Identifier: CA396375359
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1792343051
gnomAD v4: 16-67939972-G-C
MyVariant Identifiers: chr16:g.67973875G>C (hg19) chr16:g.67939972G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939972G>C , CM000678.2:g.67939972G>C GRCh38
NC_000016.9:g.67973875G>C , CM000678.1:g.67973875G>C GRCh37
NC_000016.8:g.66531376G>C NCBI36
NG_009778.1:g.9141C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1255C>G MANE Select ENSP00000264005.5:p.Leu419Val
ENST00000264005.9:c.1255C>G ENSP00000264005.5:p.Leu419Val
ENST00000570369.5:c.258C>G
ENST00000573538.5:c.993C>G ENSP00000463220.1:n.993C>G
NM_000229.1:c.1255C>G NP_000220.1:p.Leu419Val
NM_000229.2:c.1255C>G MANE Select NP_000220.1:p.Leu419Val
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