Canonical Allele Identifier: CA368996026

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267595T>C (hg19) ; chr7:g.117627541T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627541T>C , CM000669.2:g.117627541T>C	GRCh38
NC_000007.13:g.117267595T>C , CM000669.1:g.117267595T>C	GRCh37
NC_000007.12:g.117054831T>C	NCBI36
NG_016465.4:g.166758T>C , LRG_663:g.166758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3488T>C	ENSP00000497673.2:p.Val1163Ala
ENST00000647978.2:c.*3202T>C	ENSP00000497658.1:n.*3202T>C
ENST00000649781.2:c.3305T>C	ENSP00000497203.1:p.Val1102Ala
ENST00000685018.2:c.3488T>C	ENSP00000510194.2:p.Val1163Ala
ENST00000687278.2:c.*141T>C	ENSP00000509593.2:n.*141T>C
ENST00000699585.1:c.3488T>C	ENSP00000514456.1:p.Val1163Ala
ENST00000699598.1:c.3488T>C	ENSP00000514467.1:p.Val1163Ala
ENST00000699599.1:c.3488T>C	ENSP00000514468.1:p.Val1163Ala
ENST00000699600.1:c.*149T>C	ENSP00000514469.1:n.*149T>C
ENST00000699601.1:c.*1863T>C	ENSP00000514470.1:n.*1863T>C
ENST00000699602.1:c.3482T>C	ENSP00000514471.1:p.Val1161Ala
ENST00000699604.1:c.*3312T>C	ENSP00000514472.1:n.*3312T>C
ENST00000699605.1:c.3062T>C	ENSP00000514473.1:p.Val1021Ala
ENST00000685018.1:c.236T>C	ENSP00000510194.1:p.Val79Ala
ENST00000687278.1:c.1275T>C	ENSP00000509593.1:n.1275T>C
ENST00000689011.1:c.70T>C
ENST00000003084.11:c.3488T>C MANE Select	ENSP00000003084.6:p.Val1163Ala
ENST00000647720.1:c.1138T>C
ENST00000648260.1:c.2270T>C	ENSP00000497957.1:p.Val757Ala
ENST00000649406.1:c.3305T>C	ENSP00000497965.1:p.Val1102Ala
ENST00000649781.1:c.3305T>C	ENSP00000497203.1:p.Val1102Ala
ENST00000003084.10:c.3488T>C	ENSP00000003084.6:p.Val1163Ala
ENST00000426809.5:c.3398T>C	ENSP00000389119.1:p.Val1133Ala
ENST00000468795.1:c.313T>C
NM_000492.3:c.3488T>C , LRG_663t1:c.3488T>C	NP_000483.3:p.Val1163Ala
XM_011515751.1:c.3578T>C	XP_011514053.1:p.Val1193Ala
XM_011515752.1:c.3578T>C	XP_011514054.1:p.Val1193Ala
XM_011515753.1:c.3245T>C	XP_011514055.1:p.Val1082Ala
XM_011515754.1:c.3245T>C	XP_011514056.1:p.Val1082Ala
NM_000492.4:c.3488T>C MANE Select	NP_000483.3:p.Val1163Ala