Canonical Allele Identifier: CA325616

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7237
• ClinVar RCV Id: RCV000007659 ; RCV000586028 ; RCV001009487 ; RCV001375489
• dbSNP Id: rs113857788
• ExAC: 7:117304834 G / C
• gnomAD v2: 7-117304834-G-C
• gnomAD v3: 7-117664780-G-C
• gnomAD v4: 7-117664780-G-C
• MyVariant Identifiers: chr7:g.117304834G>C (hg19) ; chr7:g.117664780G>C (hg38)
• PubMed: PMID:9272157 ; PMID:12952861 ; PMID:15121783 ; PMID:15463840 ; PMID:15645635 ; PMID:15705292 ; PMID:15829248 ; PMID:16187186 ; PMID:16435054 ; PMID:16596947 ; PMID:16678503 ; PMID:17003641 ; PMID:17329263 ; PMID:17539902 ; PMID:18304229 ; PMID:19812525 ; PMID:20021716 ; PMID:20233062 ; PMID:20558957 ; PMID:21520337 ; PMID:21779199 ; PMID:22483971 ; PMID:23217326 ; PMID:23514810 ; PMID:25492507 ; PMID:26334177 ; PMID:28608624

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664780G>C , CM000669.2:g.117664780G>C	GRCh38
NC_000007.13:g.117304834G>C , CM000669.1:g.117304834G>C	GRCh37
NC_000007.12:g.117092070G>C	NCBI36
NG_016465.4:g.203997G>C , LRG_663:g.203997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*265G>C	ENSP00000497673.2:n.*265G>C
ENST00000647978.2:c.*3770G>C	ENSP00000497658.1:n.*3770G>C
ENST00000649781.2:c.3873G>C	ENSP00000497203.1:p.Gln1291His
ENST00000685018.2:c.*269G>C	ENSP00000510194.2:n.*269G>C
ENST00000687278.2:c.*709G>C	ENSP00000509593.2:n.*709G>C
ENST00000699585.1:c.*265G>C	ENSP00000514456.1:n.*265G>C
ENST00000699598.1:c.4056G>C	ENSP00000514467.1:p.Gln1352His
ENST00000699599.1:c.*269G>C	ENSP00000514468.1:n.*269G>C
ENST00000699600.1:c.*717G>C	ENSP00000514469.1:n.*717G>C
ENST00000699601.1:c.*2431G>C	ENSP00000514470.1:n.*2431G>C
ENST00000699602.1:c.4050G>C	ENSP00000514471.1:p.Gln1350His
ENST00000699604.1:c.*3880G>C	ENSP00000514472.1:n.*3880G>C
ENST00000699605.1:c.3630G>C	ENSP00000514473.1:p.Gln1210His
ENST00000699606.1:n.2224G>C
ENST00000685018.1:c.920G>C	ENSP00000510194.1:n.920G>C
ENST00000687278.1:c.1843G>C	ENSP00000509593.1:n.1843G>C
ENST00000689011.1:c.638G>C
ENST00000003084.11:c.4056G>C MANE Select	ENSP00000003084.6:p.Gln1352His
ENST00000647720.1:c.1506G>C
ENST00000649781.1:c.3873G>C	ENSP00000497203.1:p.Gln1291His
ENST00000003084.10:c.4056G>C	ENSP00000003084.6:p.Gln1352His
ENST00000426809.5:c.3966G>C	ENSP00000389119.1:p.Gln1322His
ENST00000600166.1:c.182G>C
NM_000492.3:c.4056G>C , LRG_663t1:c.4056G>C	NP_000483.3:p.Gln1352His
XM_011515751.1:c.4146G>C	XP_011514053.1:p.Gln1382His
XM_011515752.1:c.4146G>C	XP_011514054.1:p.Gln1382His
XM_011515753.1:c.3813G>C	XP_011514055.1:p.Gln1271His
XM_011515754.1:c.3813G>C	XP_011514056.1:p.Gln1271His
NM_000492.4:c.4056G>C MANE Select	NP_000483.3:p.Gln1352His