Canonical Allele Identifier: CA7903879
Gene: LITAF HGNC NCBI

Linked Data

ClinVar Variation Id: 317752
ClinVar RCV Id: RCV000260395
dbSNP Id: rs759832566
ExAC: 16:11641640 T / C
gnomAD v2: 16-11641640-T-C
gnomAD v3: 16-11547784-T-C
gnomAD v4: 16-11547784-T-C
MyVariant Identifiers: chr16:g.11641640T>C (hg19) chr16:g.11547784T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11547784T>C , CM000678.2:g.11547784T>C GRCh38
NC_000016.9:g.11641640T>C , CM000678.1:g.11641640T>C GRCh37
NC_000016.8:g.11549141T>C NCBI36
NG_009008.1:g.44167A>G , LRG_253:g.44167A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622633.5:c.*1853A>G MANE Select ENSP00000483114.1:n.*1853A>G
ENST00000571688.5:c.*1853A>G ENSP00000459533.1:n.*1853A>G
ENST00000622633.4:c.*1853A>G ENSP00000483114.1:n.*1853A>G
NM_001136472.1:c.*1853A>G NP_001129944.1:n.*1853A>G
NM_001136473.1:c.*1978A>G , LRG_253t1:c.*1978A>G NP_001129945.1:n.*1978A>G
NM_004862.3:c.*1853A>G NP_004853.2:n.*1853A>G
NR_024320.1:n.2473A>G
NM_001136472.2:c.*1853A>G MANE Select NP_001129944.1:n.*1853A>G
NM_004862.4:c.*1853A>G NP_004853.2:n.*1853A>G
NR_024320.2:n.2473A>G
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