Canonical Allele Identifier: CA457231196

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267632T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627578T>A , CM000669.2:g.117627578T>A	GRCh38
NC_000007.13:g.117267632T>A , CM000669.1:g.117267632T>A	GRCh37
NC_000007.12:g.117054868T>A	NCBI36
NG_016465.4:g.166795T>A , LRG_663:g.166795T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+8T>A	ENSP00000497673.2:n.3517+8T>A
ENST00000647978.2:c.*3239T>A	ENSP00000497658.1:n.*3239T>A
ENST00000649781.2:c.3342T>A	ENSP00000497203.1:p.Pro1114=
ENST00000685018.2:c.3525T>A	ENSP00000510194.2:p.Pro1175=
ENST00000687278.2:c.*178T>A	ENSP00000509593.2:n.*178T>A
ENST00000699585.1:c.3517+8T>A	ENSP00000514456.1:n.3517+8T>A
ENST00000699598.1:c.3525T>A	ENSP00000514467.1:p.Pro1175=
ENST00000699599.1:c.3525T>A	ENSP00000514468.1:p.Pro1175=
ENST00000699600.1:c.*186T>A	ENSP00000514469.1:n.*186T>A
ENST00000699601.1:c.*1900T>A	ENSP00000514470.1:n.*1900T>A
ENST00000699602.1:c.3519T>A	ENSP00000514471.1:p.Pro1173=
ENST00000699604.1:c.*3349T>A	ENSP00000514472.1:n.*3349T>A
ENST00000699605.1:c.3099T>A	ENSP00000514473.1:p.Pro1033=
ENST00000685018.1:c.273T>A	ENSP00000510194.1:p.Pro91=
ENST00000687278.1:c.1312T>A	ENSP00000509593.1:n.1312T>A
ENST00000689011.1:c.107T>A
ENST00000003084.11:c.3525T>A MANE Select	ENSP00000003084.6:p.Pro1175=
ENST00000647720.1:c.1167+8T>A
ENST00000648260.1:c.2307T>A	ENSP00000497957.1:p.Pro769=
ENST00000649406.1:c.3342T>A	ENSP00000497965.1:p.Pro1114=
ENST00000649781.1:c.3342T>A	ENSP00000497203.1:p.Pro1114=
ENST00000003084.10:c.3525T>A	ENSP00000003084.6:p.Pro1175=
ENST00000426809.5:c.3435T>A	ENSP00000389119.1:p.Pro1145=
ENST00000468795.1:c.350T>A
NM_000492.3:c.3525T>A , LRG_663t1:c.3525T>A	NP_000483.3:p.Pro1175=
XM_011515751.1:c.3615T>A	XP_011514053.1:p.Pro1205=
XM_011515752.1:c.3615T>A	XP_011514054.1:p.Pro1205=
XM_011515753.1:c.3282T>A	XP_011514055.1:p.Pro1094=
XM_011515754.1:c.3282T>A	XP_011514056.1:p.Pro1094=
NM_000492.4:c.3525T>A MANE Select	NP_000483.3:p.Pro1175=