Canonical Allele Identifier: CA396375816
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs202017590
gnomAD v3: 16-67940188-G-C
gnomAD v4: 16-67940188-G-C
MyVariant Identifiers: chr16:g.67974091G>C (hg19) chr16:g.67940188G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940188G>C , CM000678.2:g.67940188G>C GRCh38
NC_000016.9:g.67974091G>C , CM000678.1:g.67974091G>C GRCh37
NC_000016.8:g.66531592G>C NCBI36
NG_009778.1:g.8925C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1039C>G MANE Select ENSP00000264005.5:p.Arg347Gly
ENST00000264005.9:c.1039C>G ENSP00000264005.5:p.Arg347Gly
ENST00000570369.5:c.156-114C>G
ENST00000573538.5:c.777C>G ENSP00000463220.1:n.777C>G
NM_000229.1:c.1039C>G NP_000220.1:p.Arg347Gly
NM_000229.2:c.1039C>G MANE Select NP_000220.1:p.Arg347Gly
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