Canonical Allele Identifier: CA327208

Gene: CFTR

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3475T>C MANE Select	NP_000483.3:p.Ser1159Pro
ENST00000003084.11:c.3475T>C MANE Select	ENSP00000003084.6:p.Ser1159Pro
NM_000492.3:c.3475T>C , LRG_663t1:c.3475T>C	NP_000483.3:p.Ser1159Pro
ENST00000003084.10:c.3475T>C	ENSP00000003084.6:p.Ser1159Pro
ENST00000426809.5:c.3385T>C	ENSP00000389119.1:p.Ser1129Pro
ENST00000468795.1:c.300T>C
ENST00000647720.1:c.1125T>C
ENST00000647720.2:c.3475T>C	ENSP00000497673.2:p.Ser1159Pro
ENST00000647978.2:c.*3189T>C	ENSP00000497658.1:n.*3189T>C
ENST00000648260.1:c.2257T>C	ENSP00000497957.1:p.Ser753Pro
ENST00000649406.1:c.3292T>C	ENSP00000497965.1:p.Ser1098Pro
ENST00000649781.1:c.3292T>C	ENSP00000497203.1:p.Ser1098Pro
ENST00000649781.2:c.3292T>C	ENSP00000497203.1:p.Ser1098Pro
ENST00000685018.1:c.223T>C	ENSP00000510194.1:p.Ser75Pro
ENST00000685018.2:c.3475T>C	ENSP00000510194.2:p.Ser1159Pro
ENST00000687278.1:c.1262T>C	ENSP00000509593.1:n.1262T>C
ENST00000687278.2:c.*128T>C	ENSP00000509593.2:n.*128T>C
ENST00000689011.1:c.57T>C
ENST00000699585.1:c.3475T>C	ENSP00000514456.1:p.Ser1159Pro
ENST00000699598.1:c.3475T>C	ENSP00000514467.1:p.Ser1159Pro
ENST00000699599.1:c.3475T>C	ENSP00000514468.1:p.Ser1159Pro
ENST00000699600.1:c.*136T>C	ENSP00000514469.1:n.*136T>C
ENST00000699601.1:c.*1850T>C	ENSP00000514470.1:n.*1850T>C
ENST00000699602.1:c.3469T>C	ENSP00000514471.1:p.Ser1157Pro
ENST00000699604.1:c.*3299T>C	ENSP00000514472.1:n.*3299T>C
ENST00000699605.1:c.3049T>C	ENSP00000514473.1:p.Ser1017Pro
XM_011515751.1:c.3565T>C	XP_011514053.1:p.Ser1189Pro
XM_011515752.1:c.3565T>C	XP_011514054.1:p.Ser1189Pro
XM_011515753.1:c.3232T>C	XP_011514055.1:p.Ser1078Pro
XM_011515754.1:c.3232T>C	XP_011514056.1:p.Ser1078Pro