Canonical Allele Identifier: CA4126796

Gene: LFNG

Linked Data

• ClinVar Variation Id: 403030
• ClinVar RCV Id: RCV000455761 ; RCV001572790
• dbSNP Id: rs34637446
• ExAC: 7:2552881 AGATG / A
• gnomAD v2: 7-2552881-AGATG-A
• gnomAD v3: 7-2513247-AGATG-A
• gnomAD v4: 7-2513247-AGATG-A
• MyVariant Identifiers: chr7:g.2552906_2552909del (hg19) ; chr7:g.2552890_2552893del (hg19) ; chr7:g.2552886_2552889del (hg19) ; chr7:g.2552882_2552885del (hg19) ; chr7:g.2513272_2513275del (hg38) ; chr7:g.2513256_2513259del (hg38) ; chr7:g.2513248_2513251del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2513272_2513275del , CM000669.2:g.2513272_2513275del	GRCh38
NC_000007.13:g.2552906_2552909del , CM000669.1:g.2552906_2552909del	GRCh37
NC_000007.12:g.2519432_2519435del	NCBI36
NG_008109.2:g.5744_5747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402506.5:c.163_166del	ENSP00000385764.1:p.Asp55SerfsTer?
NM_001166355.1:c.163_166del	NP_001159827.1:p.Asp55SerfsTer?
NM_001166355.2:c.163_166del	NP_001159827.1:p.Asp55SerfsTer?