Canonical Allele Identifier: CA396375411
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs267604601
gnomAD v2: 16-67973899-G-C
gnomAD v4: 16-67939996-G-C
MyVariant Identifiers: chr16:g.67973899G>C (hg19) chr16:g.67939996G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939996G>C , CM000678.2:g.67939996G>C GRCh38
NC_000016.9:g.67973899G>C , CM000678.1:g.67973899G>C GRCh37
NC_000016.8:g.66531400G>C NCBI36
NG_009778.1:g.9117C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1231C>G MANE Select ENSP00000264005.5:p.Leu411Val
ENST00000264005.9:c.1231C>G ENSP00000264005.5:p.Leu411Val
ENST00000570369.5:c.234C>G
ENST00000573538.5:c.969C>G ENSP00000463220.1:n.969C>G
NM_000229.1:c.1231C>G NP_000220.1:p.Leu411Val
NM_000229.2:c.1231C>G MANE Select NP_000220.1:p.Leu411Val
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