Canonical Allele Identifier: CA368995935

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267582T>A (hg19) ; chr7:g.117627528T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627528T>A , CM000669.2:g.117627528T>A	GRCh38
NC_000007.13:g.117267582T>A , CM000669.1:g.117267582T>A	GRCh37
NC_000007.12:g.117054818T>A	NCBI36
NG_016465.4:g.166745T>A , LRG_663:g.166745T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3475T>A	ENSP00000497673.2:p.Ser1159Thr
ENST00000647978.2:c.*3189T>A	ENSP00000497658.1:n.*3189T>A
ENST00000649781.2:c.3292T>A	ENSP00000497203.1:p.Ser1098Thr
ENST00000685018.2:c.3475T>A	ENSP00000510194.2:p.Ser1159Thr
ENST00000687278.2:c.*128T>A	ENSP00000509593.2:n.*128T>A
ENST00000699585.1:c.3475T>A	ENSP00000514456.1:p.Ser1159Thr
ENST00000699598.1:c.3475T>A	ENSP00000514467.1:p.Ser1159Thr
ENST00000699599.1:c.3475T>A	ENSP00000514468.1:p.Ser1159Thr
ENST00000699600.1:c.*136T>A	ENSP00000514469.1:n.*136T>A
ENST00000699601.1:c.*1850T>A	ENSP00000514470.1:n.*1850T>A
ENST00000699602.1:c.3469T>A	ENSP00000514471.1:p.Ser1157Thr
ENST00000699604.1:c.*3299T>A	ENSP00000514472.1:n.*3299T>A
ENST00000699605.1:c.3049T>A	ENSP00000514473.1:p.Ser1017Thr
ENST00000685018.1:c.223T>A	ENSP00000510194.1:p.Ser75Thr
ENST00000687278.1:c.1262T>A	ENSP00000509593.1:n.1262T>A
ENST00000689011.1:c.57T>A
ENST00000003084.11:c.3475T>A MANE Select	ENSP00000003084.6:p.Ser1159Thr
ENST00000647720.1:c.1125T>A
ENST00000648260.1:c.2257T>A	ENSP00000497957.1:p.Ser753Thr
ENST00000649406.1:c.3292T>A	ENSP00000497965.1:p.Ser1098Thr
ENST00000649781.1:c.3292T>A	ENSP00000497203.1:p.Ser1098Thr
ENST00000003084.10:c.3475T>A	ENSP00000003084.6:p.Ser1159Thr
ENST00000426809.5:c.3385T>A	ENSP00000389119.1:p.Ser1129Thr
ENST00000468795.1:c.300T>A
NM_000492.3:c.3475T>A , LRG_663t1:c.3475T>A	NP_000483.3:p.Ser1159Thr
XM_011515751.1:c.3565T>A	XP_011514053.1:p.Ser1189Thr
XM_011515752.1:c.3565T>A	XP_011514054.1:p.Ser1189Thr
XM_011515753.1:c.3232T>A	XP_011514055.1:p.Ser1078Thr
XM_011515754.1:c.3232T>A	XP_011514056.1:p.Ser1078Thr
NM_000492.4:c.3475T>A MANE Select	NP_000483.3:p.Ser1159Thr