Canonical Allele Identifier: CA10636974
Gene: LITAF HGNC NCBI

Linked Data

ClinVar Variation Id: 317751
ClinVar RCV Id: RCV000355283
dbSNP Id: rs150472475
gnomAD v2: 16-11641623-G-A
gnomAD v3: 16-11547767-G-A
gnomAD v4: 16-11547767-G-A
MyVariant Identifiers: chr16:g.11641623G>A (hg19) chr16:g.11547767G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11547767G>A , CM000678.2:g.11547767G>A GRCh38
NC_000016.9:g.11641623G>A , CM000678.1:g.11641623G>A GRCh37
NC_000016.8:g.11549124G>A NCBI36
NG_009008.1:g.44184C>T , LRG_253:g.44184C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622633.5:c.*1870C>T MANE Select ENSP00000483114.1:n.*1870C>T
ENST00000571688.5:c.*1870C>T ENSP00000459533.1:n.*1870C>T
ENST00000622633.4:c.*1870C>T ENSP00000483114.1:n.*1870C>T
NM_001136472.1:c.*1870C>T NP_001129944.1:n.*1870C>T
NM_001136473.1:c.*1995C>T , LRG_253t1:c.*1995C>T NP_001129945.1:n.*1995C>T
NM_004862.3:c.*1870C>T NP_004853.2:n.*1870C>T
NR_024320.1:n.2490C>T
NM_001136472.2:c.*1870C>T MANE Select NP_001129944.1:n.*1870C>T
NM_004862.4:c.*1870C>T NP_004853.2:n.*1870C>T
NR_024320.2:n.2490C>T
Search 100 bp 5'
Search 100 bp 3'