Canonical Allele Identifier: CA396375428
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 3230697
ClinVar RCV Id: RCV004522812
MyVariant Identifiers: chr16:g.67973907T>C (hg19) chr16:g.67940004T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940004T>C , CM000678.2:g.67940004T>C GRCh38
NC_000016.9:g.67973907T>C , CM000678.1:g.67973907T>C GRCh37
NC_000016.8:g.66531408T>C NCBI36
NG_009778.1:g.9109A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1223A>G MANE Select ENSP00000264005.5:p.Asn408Ser
ENST00000264005.9:c.1223A>G ENSP00000264005.5:p.Asn408Ser
ENST00000570369.5:c.226A>G
ENST00000573538.5:c.961A>G ENSP00000463220.1:n.961A>G
NM_000229.1:c.1223A>G NP_000220.1:p.Asn408Ser
NM_000229.2:c.1223A>G MANE Select NP_000220.1:p.Asn408Ser
Search 100 bp 5'
Search 100 bp 3'