Canonical Allele Identifier: CA10646950

Gene: LITAF

Linked Data

• ClinVar Variation Id: 317769
• ClinVar RCV Id: RCV000260938
• dbSNP Id: rs367546754
• gnomAD v2: 16-11642895-C-T
• gnomAD v3: 16-11549039-C-T
• gnomAD v4: 16-11549039-C-T
• MyVariant Identifiers: chr16:g.11642895C>T (hg19) ; chr16:g.11549039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11549039C>T , CM000678.2:g.11549039C>T	GRCh38
NC_000016.9:g.11642895C>T , CM000678.1:g.11642895C>T	GRCh37
NC_000016.8:g.11550396C>T	NCBI36
NG_009008.1:g.42912G>A , LRG_253:g.42912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622633.5:c.*598G>A MANE Select	ENSP00000483114.1:n.*598G>A
ENST00000339430.9:c.*598G>A	ENSP00000340118.5:n.*598G>A
ENST00000381810.7:c.*398G>A	ENSP00000371231.3:n.*398G>A
ENST00000413364.6:c.*723G>A	ENSP00000397958.2:n.*723G>A
ENST00000571688.5:c.*598G>A	ENSP00000459533.1:n.*598G>A
ENST00000622633.4:c.*598G>A	ENSP00000483114.1:n.*598G>A
NM_001136472.1:c.*598G>A	NP_001129944.1:n.*598G>A
NM_001136473.1:c.*723G>A , LRG_253t1:c.*723G>A	NP_001129945.1:n.*723G>A
NM_004862.3:c.*598G>A	NP_004853.2:n.*598G>A
NR_024320.1:n.1218G>A
XM_006720982.2:c.*598G>A	XP_006721045.1:n.*598G>A
XM_006720983.2:c.*598G>A	XP_006721046.1:n.*598G>A
XM_006720984.2:c.*598G>A	XP_006721047.1:n.*598G>A
XM_006720985.2:c.*598G>A	XP_006721048.1:n.*598G>A
XM_011522754.1:c.*598G>A	XP_011521056.1:n.*598G>A
XM_006720982.3:c.*598G>A	XP_006721045.1:n.*598G>A
XM_006720983.4:c.*598G>A	XP_006721046.1:n.*598G>A
XM_006720984.4:c.*598G>A	XP_006721047.1:n.*598G>A
XM_006720985.3:c.*598G>A	XP_006721048.1:n.*598G>A
XM_011522754.3:c.*598G>A	XP_011521056.1:n.*598G>A
XM_017023896.1:c.*598G>A	XP_016879385.1:n.*598G>A
NM_001136472.2:c.*598G>A MANE Select	NP_001129944.1:n.*598G>A
NM_004862.4:c.*598G>A	NP_004853.2:n.*598G>A
NR_024320.2:n.1218G>A