Canonical Allele Identifier: CA325805

Gene: CFTR

Linked Data

• ClinVar Variation Id: 51031
• ClinVar RCV Id: RCV000043700 ; RCV000727142
• dbSNP Id: rs73717525
• gnomAD v2: 7-117119923-G-T
• gnomAD v3: 7-117479869-G-T
• gnomAD v4: 7-117479869-G-T
• MyVariant Identifiers: chr7:g.117119923G>T (hg19) ; chr7:g.117479869G>T (hg38)
• PubMed: PMID:10204861 ; PMID:11168023 ; PMID:11523757 ; PMID:12939925 ; PMID:15025720 ; PMID:17678620 ; PMID:18832460 ; PMID:21948798 ; PMID:25266997 ; PMID:26656651

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479869G>T , CM000669.2:g.117479869G>T	GRCh38
NC_000007.13:g.117119923G>T , CM000669.1:g.117119923G>T	GRCh37
NC_000007.12:g.116907159G>T	NCBI36
NG_016465.4:g.19086G>T , LRG_663:g.19086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+175G>T	ENSP00000417012.1:n.-191+175G>T
ENST00000673785.1:c.-406+14038G>T	ENSP00000501235.1:n.-406+14038G>T
ENST00000446805.1:c.-191+175G>T	ENSP00000417012.1:n.-191+175G>T
ENST00000546407.1:n.166+4061G>T
XM_011515751.1:c.143+524G>T	XP_011514053.1:n.143+524G>T
XM_011515752.1:c.143+524G>T	XP_011514054.1:n.143+524G>T
XM_011515753.1:c.-191+175G>T	XP_011514055.1:n.-191+175G>T
XM_011515754.1:c.-519+175G>T	XP_011514056.1:n.-519+175G>T