Canonical Allele Identifier: CA1106311404

Gene: CFTR

Linked Data

• dbSNP Id: rs1792941775
• gnomAD v3: 7-117642851-CTT-C
• gnomAD v4: 7-117642851-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642854_117642855del , CM000669.2:g.117642854_117642855del	GRCh38
NC_000007.13:g.117282908_117282909del , CM000669.1:g.117282908_117282909del	GRCh37
NC_000007.12:g.117070144_117070145del	NCBI36
NG_016465.4:g.182071_182072del , LRG_663:g.182071_182072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*82+261_*82+262del	ENSP00000497673.2:n.*82+261_*82+262del
ENST00000647978.2:c.*3587+261_*3587+262del	ENSP00000497658.1:n.*3587+261_*3587+262del
ENST00000649781.2:c.3690+261_3690+262del	ENSP00000497203.1:n.3690+261_3690+262del
ENST00000685018.2:c.3874-14_3874-13del	ENSP00000510194.2:n.3874-14_3874-13del
ENST00000687278.2:c.*526+261_*526+262del	ENSP00000509593.2:n.*526+261_*526+262del
ENST00000699585.1:c.*82+261_*82+262del	ENSP00000514456.1:n.*82+261_*82+262del
ENST00000699598.1:c.3873+261_3873+262del	ENSP00000514467.1:n.3873+261_3873+262del
ENST00000699599.1:c.3874-14_3874-13del	ENSP00000514468.1:n.3874-14_3874-13del
ENST00000699600.1:c.*534+261_*534+262del	ENSP00000514469.1:n.*534+261_*534+262del
ENST00000699601.1:c.*2248+261_*2248+262del	ENSP00000514470.1:n.*2248+261_*2248+262del
ENST00000699602.1:c.3867+261_3867+262del	ENSP00000514471.1:n.3867+261_3867+262del
ENST00000699604.1:c.*3697+261_*3697+262del	ENSP00000514472.1:n.*3697+261_*3697+262del
ENST00000699605.1:c.3447+261_3447+262del	ENSP00000514473.1:n.3447+261_3447+262del
ENST00000685018.1:c.622-14_622-13del	ENSP00000510194.1:n.622-14_622-13del
ENST00000687278.1:c.1660+261_1660+262del	ENSP00000509593.1:n.1660+261_1660+262del
ENST00000689011.1:c.455+261_455+262del
ENST00000003084.11:c.3873+261_3873+262del MANE Select	ENSP00000003084.6:n.3873+261_3873+262del
ENST00000647720.1:c.1323+261_1323+262del
ENST00000649781.1:c.3690+261_3690+262del	ENSP00000497203.1:n.3690+261_3690+262del
ENST00000003084.10:c.3873+261_3873+262del	ENSP00000003084.6:n.3873+261_3873+262del
ENST00000426809.5:c.3783+261_3783+262del	ENSP00000389119.1:n.3783+261_3783+262del
NM_000492.3:c.3873+261_3873+262del , LRG_663t1:c.3873+261_3873+262del	NP_000483.3:n.3873+261_3873+262del
XM_011515751.1:c.3963+261_3963+262del	XP_011514053.1:n.3963+261_3963+262del
XM_011515752.1:c.3963+261_3963+262del	XP_011514054.1:n.3963+261_3963+262del
XM_011515753.1:c.3630+261_3630+262del	XP_011514055.1:n.3630+261_3630+262del
XM_011515754.1:c.3630+261_3630+262del	XP_011514056.1:n.3630+261_3630+262del
NM_000492.4:c.3873+261_3873+262del MANE Select	NP_000483.3:n.3873+261_3873+262del