Canonical Allele Identifier: CA396376045
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1349101647
gnomAD v2: 16-67974201-T-G
gnomAD v4: 16-67940298-T-G
MyVariant Identifiers: chr16:g.67974201T>G (hg19) chr16:g.67940298T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940298T>G , CM000678.2:g.67940298T>G GRCh38
NC_000016.9:g.67974201T>G , CM000678.1:g.67974201T>G GRCh37
NC_000016.8:g.66531702T>G NCBI36
NG_009778.1:g.8815A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.929A>C MANE Select ENSP00000264005.5:p.His310Pro
ENST00000264005.9:c.929A>C ENSP00000264005.5:p.His310Pro
ENST00000570369.5:c.156-224A>C
ENST00000570980.1:c.713A>C ENSP00000464651.1:p.His238Pro
ENST00000573538.5:c.667A>C ENSP00000463220.1:n.667A>C
NM_000229.1:c.929A>C NP_000220.1:p.His310Pro
NM_000229.2:c.929A>C MANE Select NP_000220.1:p.His310Pro
Search 100 bp 5'
Search 100 bp 3'