Canonical Allele Identifier: CA283160905
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1046996034
gnomAD v2: 16-67974229-C-T
gnomAD v3: 16-67940326-C-T
gnomAD v4: 16-67940326-C-T
COSMIC: COSM6144926
MyVariant Identifiers: chr16:g.67974229C>T (hg19) chr16:g.67940326C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940326C>T , CM000678.2:g.67940326C>T GRCh38
NC_000016.9:g.67974229C>T , CM000678.1:g.67974229C>T GRCh37
NC_000016.8:g.66531730C>T NCBI36
NG_009778.1:g.8787G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.901G>A MANE Select ENSP00000264005.5:p.Asp301Asn
ENST00000264005.9:c.901G>A ENSP00000264005.5:p.Asp301Asn
ENST00000570369.5:c.156-252G>A
ENST00000570980.1:c.685G>A ENSP00000464651.1:p.Asp229Asn
ENST00000573538.5:c.639G>A ENSP00000463220.1:n.639G>A
NM_000229.1:c.901G>A NP_000220.1:p.Asp301Asn
NM_000229.2:c.901G>A MANE Select NP_000220.1:p.Asp301Asn
Search 100 bp 5'
Search 100 bp 3'