Canonical Allele Identifier: CA1106316951

Gene: CFTR

Linked Data

• dbSNP Id: rs1792461853
• gnomAD v3: 7-117614859-GTCATTAAATCCTTATCTCTTCTT-G
• gnomAD v4: 7-117614859-GTCATTAAATCCTTATCTCTTCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614862_117614884del , CM000669.2:g.117614862_117614884del	GRCh38
NC_000007.13:g.117254916_117254938del , CM000669.1:g.117254916_117254938del	GRCh37
NC_000007.12:g.117042152_117042174del	NCBI36
NG_016465.4:g.154079_154101del , LRG_663:g.154079_154101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3468+149_3468+171del	ENSP00000497673.2:n.3468+149_3468+171del
ENST00000647978.2:c.*3182+149_*3182+171del	ENSP00000497658.1:n.*3182+149_*3182+171del
ENST00000649781.2:c.3285+149_3285+171del	ENSP00000497203.1:n.3285+149_3285+171del
ENST00000685018.2:c.3468+149_3468+171del	ENSP00000510194.2:n.3468+149_3468+171del
ENST00000687278.2:c.3468+149_3468+171del	ENSP00000509593.2:n.3468+149_3468+171del
ENST00000699585.1:c.3468+149_3468+171del	ENSP00000514456.1:n.3468+149_3468+171del
ENST00000699598.1:c.3468+149_3468+171del	ENSP00000514467.1:n.3468+149_3468+171del
ENST00000699599.1:c.3468+149_3468+171del	ENSP00000514468.1:n.3468+149_3468+171del
ENST00000699600.1:c.3468+149_3468+171del	ENSP00000514469.1:n.3468+149_3468+171del
ENST00000699601.1:c.*1843+149_*1843+171del	ENSP00000514470.1:n.*1843+149_*1843+171del
ENST00000699602.1:c.3462+149_3462+171del	ENSP00000514471.1:n.3462+149_3462+171del
ENST00000699604.1:c.*3292+149_*3292+171del	ENSP00000514472.1:n.*3292+149_*3292+171del
ENST00000699605.1:c.3042+149_3042+171del	ENSP00000514473.1:n.3042+149_3042+171del
ENST00000685018.1:c.216+149_216+171del	ENSP00000510194.1:n.216+149_216+171del
ENST00000687278.1:c.1059+149_1059+171del	ENSP00000509593.1:n.1059+149_1059+171del
ENST00000689011.1:c.50+149_50+171del
ENST00000003084.11:c.3468+149_3468+171del MANE Select	ENSP00000003084.6:n.3468+149_3468+171del
ENST00000647720.1:c.1118+149_1118+171del
ENST00000648260.1:c.2250+149_2250+171del	ENSP00000497957.1:n.2250+149_2250+171del
ENST00000649406.1:c.3285+149_3285+171del	ENSP00000497965.1:n.3285+149_3285+171del
ENST00000649781.1:c.3285+149_3285+171del	ENSP00000497203.1:n.3285+149_3285+171del
ENST00000003084.10:c.3468+149_3468+171del	ENSP00000003084.6:n.3468+149_3468+171del
ENST00000426809.5:c.3378+149_3378+171del	ENSP00000389119.1:n.3378+149_3378+171del
ENST00000468795.1:c.293+149_293+171del
NM_000492.3:c.3468+149_3468+171del , LRG_663t1:c.3468+149_3468+171del	NP_000483.3:n.3468+149_3468+171del
XM_011515751.1:c.3558+149_3558+171del	XP_011514053.1:n.3558+149_3558+171del
XM_011515752.1:c.3558+149_3558+171del	XP_011514054.1:n.3558+149_3558+171del
XM_011515753.1:c.3225+149_3225+171del	XP_011514055.1:n.3225+149_3225+171del
XM_011515754.1:c.3225+149_3225+171del	XP_011514056.1:n.3225+149_3225+171del
NM_000492.4:c.3468+149_3468+171del MANE Select	NP_000483.3:n.3468+149_3468+171del