Canonical Allele Identifier: CA4451546

Gene: CFTR

Linked Data

• ClinVar Variation Id: 439484
• ClinVar RCV Id: RCV000507879 ; RCV000630463 ; RCV001834636
• dbSNP Id: rs200921635
• ExAC: 7:117282563 T / C
• gnomAD v2: 7-117282563-T-C
• gnomAD v3: 7-117642509-T-C
• gnomAD v4: 7-117642509-T-C
• MyVariant Identifiers: chr7:g.117282563T>C (hg19) ; chr7:g.117642509T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642509T>C , CM000669.2:g.117642509T>C	GRCh38
NC_000007.13:g.117282563T>C , CM000669.1:g.117282563T>C	GRCh37
NC_000007.12:g.117069799T>C	NCBI36
NG_016465.4:g.181726T>C , LRG_663:g.181726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3589T>C	ENSP00000497673.2:p.Ter1197Arg
ENST00000647978.2:c.*3503T>C	ENSP00000497658.1:n.*3503T>C
ENST00000649781.2:c.3606T>C	ENSP00000497203.1:p.Thr1202=
ENST00000685018.2:c.3789T>C	ENSP00000510194.2:p.Thr1263=
ENST00000687278.2:c.*442T>C	ENSP00000509593.2:n.*442T>C
ENST00000699585.1:c.3589T>C	ENSP00000514456.1:p.Ter1197Arg
ENST00000699598.1:c.3789T>C	ENSP00000514467.1:p.Thr1263=
ENST00000699599.1:c.3789T>C	ENSP00000514468.1:p.Thr1263=
ENST00000699600.1:c.*450T>C	ENSP00000514469.1:n.*450T>C
ENST00000699601.1:c.*2164T>C	ENSP00000514470.1:n.*2164T>C
ENST00000699602.1:c.3783T>C	ENSP00000514471.1:p.Thr1261=
ENST00000699604.1:c.*3613T>C	ENSP00000514472.1:n.*3613T>C
ENST00000699605.1:c.3363T>C	ENSP00000514473.1:p.Thr1121=
ENST00000685018.1:c.537T>C	ENSP00000510194.1:p.Thr179=
ENST00000687278.1:c.1576T>C	ENSP00000509593.1:n.1576T>C
ENST00000689011.1:c.371T>C
ENST00000003084.11:c.3789T>C MANE Select	ENSP00000003084.6:p.Thr1263=
ENST00000647720.1:c.1239T>C
ENST00000649781.1:c.3606T>C	ENSP00000497203.1:p.Thr1202=
ENST00000003084.10:c.3789T>C	ENSP00000003084.6:p.Thr1263=
ENST00000426809.5:c.3699T>C	ENSP00000389119.1:p.Thr1233=
NM_000492.3:c.3789T>C , LRG_663t1:c.3789T>C	NP_000483.3:p.Thr1263=
XM_011515751.1:c.3879T>C	XP_011514053.1:p.Thr1293=
XM_011515752.1:c.3879T>C	XP_011514054.1:p.Thr1293=
XM_011515753.1:c.3546T>C	XP_011514055.1:p.Thr1182=
XM_011515754.1:c.3546T>C	XP_011514056.1:p.Thr1182=
NM_000492.4:c.3789T>C MANE Select	NP_000483.3:p.Thr1263=