Canonical Allele Identifier: CA164976434

Gene: CFTR

Linked Data

• dbSNP Id: rs1041988265
• MyVariant Identifiers: chr7:g.117267589G>T (hg19) ; chr7:g.117627535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627535G>T , CM000669.2:g.117627535G>T	GRCh38
NC_000007.13:g.117267589G>T , CM000669.1:g.117267589G>T	GRCh37
NC_000007.12:g.117054825G>T	NCBI36
NG_016465.4:g.166752G>T , LRG_663:g.166752G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3482G>T	ENSP00000497673.2:p.Ser1161Ile
ENST00000647978.2:c.*3196G>T	ENSP00000497658.1:n.*3196G>T
ENST00000649781.2:c.3299G>T	ENSP00000497203.1:p.Ser1100Ile
ENST00000685018.2:c.3482G>T	ENSP00000510194.2:p.Ser1161Ile
ENST00000687278.2:c.*135G>T	ENSP00000509593.2:n.*135G>T
ENST00000699585.1:c.3482G>T	ENSP00000514456.1:p.Ser1161Ile
ENST00000699598.1:c.3482G>T	ENSP00000514467.1:p.Ser1161Ile
ENST00000699599.1:c.3482G>T	ENSP00000514468.1:p.Ser1161Ile
ENST00000699600.1:c.*143G>T	ENSP00000514469.1:n.*143G>T
ENST00000699601.1:c.*1857G>T	ENSP00000514470.1:n.*1857G>T
ENST00000699602.1:c.3476G>T	ENSP00000514471.1:p.Ser1159Ile
ENST00000699604.1:c.*3306G>T	ENSP00000514472.1:n.*3306G>T
ENST00000699605.1:c.3056G>T	ENSP00000514473.1:p.Ser1019Ile
ENST00000685018.1:c.230G>T	ENSP00000510194.1:p.Ser77Ile
ENST00000687278.1:c.1269G>T	ENSP00000509593.1:n.1269G>T
ENST00000689011.1:c.64G>T
ENST00000003084.11:c.3482G>T MANE Select	ENSP00000003084.6:p.Ser1161Ile
ENST00000647720.1:c.1132G>T
ENST00000648260.1:c.2264G>T	ENSP00000497957.1:p.Ser755Ile
ENST00000649406.1:c.3299G>T	ENSP00000497965.1:p.Ser1100Ile
ENST00000649781.1:c.3299G>T	ENSP00000497203.1:p.Ser1100Ile
ENST00000003084.10:c.3482G>T	ENSP00000003084.6:p.Ser1161Ile
ENST00000426809.5:c.3392G>T	ENSP00000389119.1:p.Ser1131Ile
ENST00000468795.1:c.307G>T
NM_000492.3:c.3482G>T , LRG_663t1:c.3482G>T	NP_000483.3:p.Ser1161Ile
XM_011515751.1:c.3572G>T	XP_011514053.1:p.Ser1191Ile
XM_011515752.1:c.3572G>T	XP_011514054.1:p.Ser1191Ile
XM_011515753.1:c.3239G>T	XP_011514055.1:p.Ser1080Ile
XM_011515754.1:c.3239G>T	XP_011514056.1:p.Ser1080Ile
NM_000492.4:c.3482G>T MANE Select	NP_000483.3:p.Ser1161Ile