Canonical Allele Identifier: CA283160485
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs965824310
gnomAD v2: 16-67973981-C-G
gnomAD v3: 16-67940078-C-G
gnomAD v4: 16-67940078-C-G
MyVariant Identifiers: chr16:g.67973981C>G (hg19) chr16:g.67940078C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940078C>G , CM000678.2:g.67940078C>G GRCh38
NC_000016.9:g.67973981C>G , CM000678.1:g.67973981C>G GRCh37
NC_000016.8:g.66531482C>G NCBI36
NG_009778.1:g.9035G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1149G>C MANE Select ENSP00000264005.5:p.Trp383Cys
ENST00000264005.9:c.1149G>C ENSP00000264005.5:p.Trp383Cys
ENST00000570369.5:c.156-4G>C
ENST00000573538.5:c.887G>C ENSP00000463220.1:n.887G>C
NM_000229.1:c.1149G>C NP_000220.1:p.Trp383Cys
NM_000229.2:c.1149G>C MANE Select NP_000220.1:p.Trp383Cys
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