Canonical Allele Identifier: CA368995980

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267588A>T (hg19) ; chr7:g.117627534A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627534A>T , CM000669.2:g.117627534A>T	GRCh38
NC_000007.13:g.117267588A>T , CM000669.1:g.117267588A>T	GRCh37
NC_000007.12:g.117054824A>T	NCBI36
NG_016465.4:g.166751A>T , LRG_663:g.166751A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3481A>T	ENSP00000497673.2:p.Ser1161Cys
ENST00000647978.2:c.*3195A>T	ENSP00000497658.1:n.*3195A>T
ENST00000649781.2:c.3298A>T	ENSP00000497203.1:p.Ser1100Cys
ENST00000685018.2:c.3481A>T	ENSP00000510194.2:p.Ser1161Cys
ENST00000687278.2:c.*134A>T	ENSP00000509593.2:n.*134A>T
ENST00000699585.1:c.3481A>T	ENSP00000514456.1:p.Ser1161Cys
ENST00000699598.1:c.3481A>T	ENSP00000514467.1:p.Ser1161Cys
ENST00000699599.1:c.3481A>T	ENSP00000514468.1:p.Ser1161Cys
ENST00000699600.1:c.*142A>T	ENSP00000514469.1:n.*142A>T
ENST00000699601.1:c.*1856A>T	ENSP00000514470.1:n.*1856A>T
ENST00000699602.1:c.3475A>T	ENSP00000514471.1:p.Ser1159Cys
ENST00000699604.1:c.*3305A>T	ENSP00000514472.1:n.*3305A>T
ENST00000699605.1:c.3055A>T	ENSP00000514473.1:p.Ser1019Cys
ENST00000685018.1:c.229A>T	ENSP00000510194.1:p.Ser77Cys
ENST00000687278.1:c.1268A>T	ENSP00000509593.1:n.1268A>T
ENST00000689011.1:c.63A>T
ENST00000003084.11:c.3481A>T MANE Select	ENSP00000003084.6:p.Ser1161Cys
ENST00000647720.1:c.1131A>T
ENST00000648260.1:c.2263A>T	ENSP00000497957.1:p.Ser755Cys
ENST00000649406.1:c.3298A>T	ENSP00000497965.1:p.Ser1100Cys
ENST00000649781.1:c.3298A>T	ENSP00000497203.1:p.Ser1100Cys
ENST00000003084.10:c.3481A>T	ENSP00000003084.6:p.Ser1161Cys
ENST00000426809.5:c.3391A>T	ENSP00000389119.1:p.Ser1131Cys
ENST00000468795.1:c.306A>T
NM_000492.3:c.3481A>T , LRG_663t1:c.3481A>T	NP_000483.3:p.Ser1161Cys
XM_011515751.1:c.3571A>T	XP_011514053.1:p.Ser1191Cys
XM_011515752.1:c.3571A>T	XP_011514054.1:p.Ser1191Cys
XM_011515753.1:c.3238A>T	XP_011514055.1:p.Ser1080Cys
XM_011515754.1:c.3238A>T	XP_011514056.1:p.Ser1080Cys
NM_000492.4:c.3481A>T MANE Select	NP_000483.3:p.Ser1161Cys