Canonical Allele Identifier: CA832114311

Gene: CFTR

Linked Data

• dbSNP Id: rs1172220595
• gnomAD v3: 7-117642902-CAAGT-C
• gnomAD v4: 7-117642902-CAAGT-C
• MyVariant Identifiers: chr7:g.117282957_117282960del (hg19) ; chr7:g.117642903_117642906del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642903_117642906del , CM000669.2:g.117642903_117642906del	GRCh38
NC_000007.13:g.117282957_117282960del , CM000669.1:g.117282957_117282960del	GRCh37
NC_000007.12:g.117070193_117070196del	NCBI36
NG_016465.4:g.182120_182123del , LRG_663:g.182120_182123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*82+310_*82+313del	ENSP00000497673.2:n.*82+310_*82+313del
ENST00000647978.2:c.*3587+310_*3587+313del	ENSP00000497658.1:n.*3587+310_*3587+313del
ENST00000649781.2:c.3690+310_3690+313del	ENSP00000497203.1:n.3690+310_3690+313del
ENST00000685018.2:c.*6_*9del	ENSP00000510194.2:n.*6_*9del
ENST00000687278.2:c.*526+310_*526+313del	ENSP00000509593.2:n.*526+310_*526+313del
ENST00000699585.1:c.*82+310_*82+313del	ENSP00000514456.1:n.*82+310_*82+313del
ENST00000699598.1:c.3873+310_3873+313del	ENSP00000514467.1:n.3873+310_3873+313del
ENST00000699599.1:c.*6_*9del	ENSP00000514468.1:n.*6_*9del
ENST00000699600.1:c.*534+310_*534+313del	ENSP00000514469.1:n.*534+310_*534+313del
ENST00000699601.1:c.*2248+310_*2248+313del	ENSP00000514470.1:n.*2248+310_*2248+313del
ENST00000699602.1:c.3867+310_3867+313del	ENSP00000514471.1:n.3867+310_3867+313del
ENST00000699604.1:c.*3697+310_*3697+313del	ENSP00000514472.1:n.*3697+310_*3697+313del
ENST00000699605.1:c.3447+310_3447+313del	ENSP00000514473.1:n.3447+310_3447+313del
ENST00000685018.1:c.657_660del	ENSP00000510194.1:n.657_660del
ENST00000687278.1:c.1660+310_1660+313del	ENSP00000509593.1:n.1660+310_1660+313del
ENST00000689011.1:c.455+310_455+313del
ENST00000003084.11:c.3873+310_3873+313del MANE Select	ENSP00000003084.6:n.3873+310_3873+313del
ENST00000647720.1:c.1323+310_1323+313del
ENST00000649781.1:c.3690+310_3690+313del	ENSP00000497203.1:n.3690+310_3690+313del
ENST00000003084.10:c.3873+310_3873+313del	ENSP00000003084.6:n.3873+310_3873+313del
ENST00000426809.5:c.3783+310_3783+313del	ENSP00000389119.1:n.3783+310_3783+313del
NM_000492.3:c.3873+310_3873+313del , LRG_663t1:c.3873+310_3873+313del	NP_000483.3:n.3873+310_3873+313del
XM_011515751.1:c.3963+310_3963+313del	XP_011514053.1:n.3963+310_3963+313del
XM_011515752.1:c.3963+310_3963+313del	XP_011514054.1:n.3963+310_3963+313del
XM_011515753.1:c.3630+310_3630+313del	XP_011514055.1:n.3630+310_3630+313del
XM_011515754.1:c.3630+310_3630+313del	XP_011514056.1:n.3630+310_3630+313del
NM_000492.4:c.3873+310_3873+313del MANE Select	NP_000483.3:n.3873+310_3873+313del