Canonical Allele Identifier: CA832112788

Gene: CFTR

Linked Data

• dbSNP Id: rs1267078631
• gnomAD v3: 7-117603191-A-AAAATG
• gnomAD v4: 7-117603191-A-AAAATG
• MyVariant Identifiers: chr7:g.117243245_117243246insAAATG (hg19) ; chr7:g.117603191_117603192insAAATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603194_117603198dup , CM000669.2:g.117603194_117603198dup	GRCh38
NC_000007.13:g.117243248_117243252dup , CM000669.1:g.117243248_117243252dup	GRCh37
NC_000007.12:g.117030484_117030488dup	NCBI36
NG_016465.4:g.142411_142415dup , LRG_663:g.142411_142415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2657+331_2658-334dup	ENSP00000497673.2:n.2657+331_2658-334dup
ENST00000647978.2:c.*2371+331_*2372-334dup	ENSP00000497658.1:n.*2371+331_*2372-334dup
ENST00000649781.2:c.2474+331_2475-334dup	ENSP00000497203.1:n.2474+331_2475-334dup
ENST00000685018.2:c.2657+331_2658-334dup	ENSP00000510194.2:n.2657+331_2658-334dup
ENST00000687278.2:c.2657+331_2658-334dup	ENSP00000509593.2:n.2657+331_2658-334dup
ENST00000699585.1:c.2657+331_2658-334dup	ENSP00000514456.1:n.2657+331_2658-334dup
ENST00000699598.1:c.2657+331_2658-334dup	ENSP00000514467.1:n.2657+331_2658-334dup
ENST00000699599.1:c.2657+331_2658-334dup	ENSP00000514468.1:n.2657+331_2658-334dup
ENST00000699600.1:c.2657+331_2658-334dup	ENSP00000514469.1:n.2657+331_2658-334dup
ENST00000699601.1:c.*957+331_*958-334dup	ENSP00000514470.1:n.*957+331_*958-334dup
ENST00000699602.1:c.2657+331_2658-334dup	ENSP00000514471.1:n.2657+331_2658-334dup
ENST00000699604.1:c.*2481+331_*2482-334dup	ENSP00000514472.1:n.*2481+331_*2482-334dup
ENST00000699605.1:c.2231+331_2232-334dup	ENSP00000514473.1:n.2231+331_2232-334dup
ENST00000687278.1:c.248+331_249-334dup	ENSP00000509593.1:n.248+331_249-334dup
ENST00000003084.11:c.2657+331_2658-334dup MANE Select	ENSP00000003084.6:n.2657+331_2658-334dup
ENST00000647720.1:c.307+331_308-334dup
ENST00000648260.1:c.1439+331_1440-334dup	ENSP00000497957.1:n.1439+331_1440-334dup
ENST00000649406.1:c.2474+331_2475-334dup	ENSP00000497965.1:n.2474+331_2475-334dup
ENST00000649781.1:c.2474+331_2475-334dup	ENSP00000497203.1:n.2474+331_2475-334dup
ENST00000003084.10:c.2657+331_2658-334dup	ENSP00000003084.6:n.2657+331_2658-334dup
ENST00000426809.5:c.2567+331_2568-334dup	ENSP00000389119.1:n.2567+331_2568-334dup
NM_000492.3:c.2657+331_2658-334dup , LRG_663t1:c.2657+331_2658-334dup	NP_000483.3:n.2657+331_2658-334dup
XM_011515751.1:c.2747+331_2748-334dup	XP_011514053.1:n.2747+331_2748-334dup
XM_011515752.1:c.2747+331_2748-334dup	XP_011514054.1:n.2747+331_2748-334dup
XM_011515753.1:c.2414+331_2415-334dup	XP_011514055.1:n.2414+331_2415-334dup
XM_011515754.1:c.2414+331_2415-334dup	XP_011514056.1:n.2414+331_2415-334dup
NM_000492.4:c.2657+331_2658-334dup MANE Select	NP_000483.3:n.2657+331_2658-334dup