Canonical Allele Identifier: CA623122721
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1349724903
gnomAD v2: 16-67973895-TC-T
gnomAD v4: 16-67939992-TC-T
MyVariant Identifiers: chr16:g.67973896del (hg19) chr16:g.67939993del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939994del , CM000678.2:g.67939994del GRCh38
NC_000016.9:g.67973897del , CM000678.1:g.67973897del GRCh37
NC_000016.8:g.66531398del NCBI36
NG_009778.1:g.9120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1234del MANE Select ENSP00000264005.5:p.Glu412SerfsTer?
ENST00000264005.9:c.1234del ENSP00000264005.5:p.Glu412SerfsTer?
ENST00000570369.5:c.237del
ENST00000573538.5:c.972del ENSP00000463220.1:n.972del
NM_000229.1:c.1234del NP_000220.1:p.Glu412SerfsTer?
NM_000229.2:c.1234del MANE Select NP_000220.1:p.Glu412SerfsTer?
Search 100 bp 5'
Search 100 bp 3'