Canonical Allele Identifier: CA622937053
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1466822212
gnomAD v2: 16-67974735-CT-C
gnomAD v3: 16-67940832-CT-C
gnomAD v4: 16-67940832-CT-C
MyVariant Identifiers: chr16:g.67974736del (hg19) chr16:g.67940833del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940833del , CM000678.2:g.67940833del GRCh38
NC_000016.9:g.67974736del , CM000678.1:g.67974736del GRCh37
NC_000016.8:g.66532237del NCBI36
NG_009778.1:g.8280del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-355del MANE Select ENSP00000264005.5:n.749-355del
ENST00000264005.9:c.749-355del ENSP00000264005.5:n.749-355del
ENST00000570369.5:c.156-759del
ENST00000570980.1:c.533-355del ENSP00000464651.1:n.533-355del
ENST00000573538.5:c.392-2del ENSP00000463220.1:n.392-2del
NM_000229.1:c.749-355del NP_000220.1:n.749-355del
NM_000229.2:c.749-355del MANE Select NP_000220.1:n.749-355del
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