Canonical Allele Identifier: CA368990413

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1798835
• ClinVar RCV Id: RCV002435806
• dbSNP Id: rs397508479
• gnomAD v3: 7-117610544-T-C
• gnomAD v4: 7-117610544-T-C
• MyVariant Identifiers: chr7:g.117250598T>C (hg19) ; chr7:g.117610544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610544T>C , CM000669.2:g.117610544T>C	GRCh38
NC_000007.13:g.117250598T>C , CM000669.1:g.117250598T>C	GRCh37
NC_000007.12:g.117037834T>C	NCBI36
NG_016465.4:g.149761T>C , LRG_663:g.149761T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3014T>C	ENSP00000497673.2:p.Ile1005Thr
ENST00000647978.2:c.*2728T>C	ENSP00000497658.1:n.*2728T>C
ENST00000649781.2:c.2831T>C	ENSP00000497203.1:p.Ile944Thr
ENST00000685018.2:c.3014T>C	ENSP00000510194.2:p.Ile1005Thr
ENST00000687278.2:c.3014T>C	ENSP00000509593.2:p.Ile1005Thr
ENST00000699585.1:c.3014T>C	ENSP00000514456.1:p.Ile1005Thr
ENST00000699598.1:c.3014T>C	ENSP00000514467.1:p.Ile1005Thr
ENST00000699599.1:c.3014T>C	ENSP00000514468.1:p.Ile1005Thr
ENST00000699600.1:c.3014T>C	ENSP00000514469.1:p.Ile1005Thr
ENST00000699601.1:c.*1314T>C	ENSP00000514470.1:n.*1314T>C
ENST00000699602.1:c.3014T>C	ENSP00000514471.1:p.Ile1005Thr
ENST00000699604.1:c.*2838T>C	ENSP00000514472.1:n.*2838T>C
ENST00000699605.1:c.2588T>C	ENSP00000514473.1:p.Ile863Thr
ENST00000687278.1:c.605T>C	ENSP00000509593.1:p.Ile202Thr
ENST00000003084.11:c.3014T>C MANE Select	ENSP00000003084.6:p.Ile1005Thr
ENST00000647720.1:c.664T>C
ENST00000648260.1:c.1796T>C	ENSP00000497957.1:p.Ile599Thr
ENST00000649406.1:c.2831T>C	ENSP00000497965.1:p.Ile944Thr
ENST00000649781.1:c.2831T>C	ENSP00000497203.1:p.Ile944Thr
ENST00000003084.10:c.3014T>C	ENSP00000003084.6:p.Ile1005Thr
ENST00000426809.5:c.2924T>C	ENSP00000389119.1:p.Ile975Thr
NM_000492.3:c.3014T>C , LRG_663t1:c.3014T>C	NP_000483.3:p.Ile1005Thr
XM_011515751.1:c.3104T>C	XP_011514053.1:p.Ile1035Thr
XM_011515752.1:c.3104T>C	XP_011514054.1:p.Ile1035Thr
XM_011515753.1:c.2771T>C	XP_011514055.1:p.Ile924Thr
XM_011515754.1:c.2771T>C	XP_011514056.1:p.Ile924Thr
NM_000492.4:c.3014T>C MANE Select	NP_000483.3:p.Ile1005Thr