Canonical Allele Identifier: CA368996155

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267614G>A (hg19) ; chr7:g.117627560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627560G>A , CM000669.2:g.117627560G>A	GRCh38
NC_000007.13:g.117267614G>A , CM000669.1:g.117267614G>A	GRCh37
NC_000007.12:g.117054850G>A	NCBI36
NG_016465.4:g.166777G>A , LRG_663:g.166777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3507G>A	ENSP00000497673.2:p.Met1169Ile
ENST00000647978.2:c.*3221G>A	ENSP00000497658.1:n.*3221G>A
ENST00000649781.2:c.3324G>A	ENSP00000497203.1:p.Met1108Ile
ENST00000685018.2:c.3507G>A	ENSP00000510194.2:p.Met1169Ile
ENST00000687278.2:c.*160G>A	ENSP00000509593.2:n.*160G>A
ENST00000699585.1:c.3507G>A	ENSP00000514456.1:p.Met1169Ile
ENST00000699598.1:c.3507G>A	ENSP00000514467.1:p.Met1169Ile
ENST00000699599.1:c.3507G>A	ENSP00000514468.1:p.Met1169Ile
ENST00000699600.1:c.*168G>A	ENSP00000514469.1:n.*168G>A
ENST00000699601.1:c.*1882G>A	ENSP00000514470.1:n.*1882G>A
ENST00000699602.1:c.3501G>A	ENSP00000514471.1:p.Met1167Ile
ENST00000699604.1:c.*3331G>A	ENSP00000514472.1:n.*3331G>A
ENST00000699605.1:c.3081G>A	ENSP00000514473.1:p.Met1027Ile
ENST00000685018.1:c.255G>A	ENSP00000510194.1:p.Met85Ile
ENST00000687278.1:c.1294G>A	ENSP00000509593.1:n.1294G>A
ENST00000689011.1:c.89G>A
ENST00000003084.11:c.3507G>A MANE Select	ENSP00000003084.6:p.Met1169Ile
ENST00000647720.1:c.1157G>A
ENST00000648260.1:c.2289G>A	ENSP00000497957.1:p.Met763Ile
ENST00000649406.1:c.3324G>A	ENSP00000497965.1:p.Met1108Ile
ENST00000649781.1:c.3324G>A	ENSP00000497203.1:p.Met1108Ile
ENST00000003084.10:c.3507G>A	ENSP00000003084.6:p.Met1169Ile
ENST00000426809.5:c.3417G>A	ENSP00000389119.1:p.Met1139Ile
ENST00000468795.1:c.332G>A
NM_000492.3:c.3507G>A , LRG_663t1:c.3507G>A	NP_000483.3:p.Met1169Ile
XM_011515751.1:c.3597G>A	XP_011514053.1:p.Met1199Ile
XM_011515752.1:c.3597G>A	XP_011514054.1:p.Met1199Ile
XM_011515753.1:c.3264G>A	XP_011514055.1:p.Met1088Ile
XM_011515754.1:c.3264G>A	XP_011514056.1:p.Met1088Ile
NM_000492.4:c.3507G>A MANE Select	NP_000483.3:p.Met1169Ile