Canonical Allele Identifier: CA368997159

Gene: CFTR

Linked Data

• dbSNP Id: rs75647395
• gnomAD v2: 7-117267714-A-T
• gnomAD v3: 7-117627660-A-T
• gnomAD v4: 7-117627660-A-T
• MyVariant Identifiers: chr7:g.117267714A>T (hg19) ; chr7:g.117627660A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627660A>T , CM000669.2:g.117627660A>T	GRCh38
NC_000007.13:g.117267714A>T , CM000669.1:g.117267714A>T	GRCh37
NC_000007.12:g.117054950A>T	NCBI36
NG_016465.4:g.166877A>T , LRG_663:g.166877A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+90A>T	ENSP00000497673.2:n.3517+90A>T
ENST00000647978.2:c.*3321A>T	ENSP00000497658.1:n.*3321A>T
ENST00000649781.2:c.3424A>T	ENSP00000497203.1:p.Ile1142Phe
ENST00000685018.2:c.3607A>T	ENSP00000510194.2:p.Ile1203Phe
ENST00000687278.2:c.*260A>T	ENSP00000509593.2:n.*260A>T
ENST00000699585.1:c.3517+90A>T	ENSP00000514456.1:n.3517+90A>T
ENST00000699598.1:c.3607A>T	ENSP00000514467.1:p.Ile1203Phe
ENST00000699599.1:c.3607A>T	ENSP00000514468.1:p.Ile1203Phe
ENST00000699600.1:c.*268A>T	ENSP00000514469.1:n.*268A>T
ENST00000699601.1:c.*1982A>T	ENSP00000514470.1:n.*1982A>T
ENST00000699602.1:c.3601A>T	ENSP00000514471.1:p.Ile1201Phe
ENST00000699604.1:c.*3431A>T	ENSP00000514472.1:n.*3431A>T
ENST00000699605.1:c.3181A>T	ENSP00000514473.1:p.Ile1061Phe
ENST00000685018.1:c.355A>T	ENSP00000510194.1:p.Ile119Phe
ENST00000687278.1:c.1394A>T	ENSP00000509593.1:n.1394A>T
ENST00000689011.1:c.189A>T
ENST00000003084.11:c.3607A>T MANE Select	ENSP00000003084.6:p.Ile1203Phe
ENST00000647720.1:c.1167+90A>T
ENST00000648260.1:c.2389A>T	ENSP00000497957.1:p.Ile797Phe
ENST00000649406.1:c.3424A>T	ENSP00000497965.1:p.Ile1142Phe
ENST00000649781.1:c.3424A>T	ENSP00000497203.1:p.Ile1142Phe
ENST00000003084.10:c.3607A>T	ENSP00000003084.6:p.Ile1203Phe
ENST00000426809.5:c.3517A>T	ENSP00000389119.1:p.Ile1173Phe
ENST00000468795.1:c.432A>T
NM_000492.3:c.3607A>T , LRG_663t1:c.3607A>T	NP_000483.3:p.Ile1203Phe
XM_011515751.1:c.3697A>T	XP_011514053.1:p.Ile1233Phe
XM_011515752.1:c.3697A>T	XP_011514054.1:p.Ile1233Phe
XM_011515753.1:c.3364A>T	XP_011514055.1:p.Ile1122Phe
XM_011515754.1:c.3364A>T	XP_011514056.1:p.Ile1122Phe
NM_000492.4:c.3607A>T MANE Select	NP_000483.3:p.Ile1203Phe