Canonical Allele Identifier: CA283161350
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs983552659
gnomAD v2: 16-67974705-C-G
gnomAD v3: 16-67940802-C-G
gnomAD v4: 16-67940802-C-G
MyVariant Identifiers: chr16:g.67974705C>G (hg19) chr16:g.67940802C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940802C>G , CM000678.2:g.67940802C>G GRCh38
NC_000016.9:g.67974705C>G , CM000678.1:g.67974705C>G GRCh37
NC_000016.8:g.66532206C>G NCBI36
NG_009778.1:g.8311G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-324G>C MANE Select ENSP00000264005.5:n.749-324G>C
ENST00000264005.9:c.749-324G>C ENSP00000264005.5:n.749-324G>C
ENST00000570369.5:c.156-728G>C
ENST00000570980.1:c.533-324G>C ENSP00000464651.1:n.533-324G>C
ENST00000573538.5:c.421G>C ENSP00000463220.1:n.421G>C
NM_000229.1:c.749-324G>C NP_000220.1:n.749-324G>C
NM_000229.2:c.749-324G>C MANE Select NP_000220.1:n.749-324G>C
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