Canonical Allele Identifier: CA457227315

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117227892_117227893insATTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587838_117587839insATTT , CM000669.2:g.117587838_117587839insATTT	GRCh38
NC_000007.13:g.117227892_117227893insATTT , CM000669.1:g.117227892_117227893insATTT	GRCh37
NC_000007.12:g.117015128_117015129insATTT	NCBI36
NG_016465.4:g.127055_127056insATTT , LRG_663:g.127055_127056insATTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1679+5_1679+6insATTT	ENSP00000497673.2:n.1679+5_1679+6insATTT
ENST00000647978.2:c.*1393+5_*1393+6insATTT	ENSP00000497658.1:n.*1393+5_*1393+6insATT...
ENST00000649781.2:c.1496+5_1496+6insATTT	ENSP00000497203.1:n.1496+5_1496+6insATTT
ENST00000685018.2:c.1679+5_1679+6insATTT	ENSP00000510194.2:n.1679+5_1679+6insATTT
ENST00000687278.2:c.1679+5_1679+6insATTT	ENSP00000509593.2:n.1679+5_1679+6insATTT
ENST00000699585.1:c.1679+5_1679+6insATTT	ENSP00000514456.1:n.1679+5_1679+6insATTT
ENST00000699598.1:c.1679+5_1679+6insATTT	ENSP00000514467.1:n.1679+5_1679+6insATTT
ENST00000699599.1:c.1679+5_1679+6insATTT	ENSP00000514468.1:n.1679+5_1679+6insATTT
ENST00000699600.1:c.1679+5_1679+6insATTT	ENSP00000514469.1:n.1679+5_1679+6insATTT
ENST00000699601.1:c.1679+5_1679+6insATTT	ENSP00000514470.1:n.1679+5_1679+6insATTT
ENST00000699602.1:c.1679+5_1679+6insATTT	ENSP00000514471.1:n.1679+5_1679+6insATTT
ENST00000699604.1:c.*1503+5_*1503+6insATTT	ENSP00000514472.1:n.*1503+5_*1503+6insATT...
ENST00000699605.1:c.1253+5_1253+6insATTT	ENSP00000514473.1:n.1253+5_1253+6insATTT
ENST00000003084.11:c.1679+5_1679+6insATTT MANE Select	ENSP00000003084.6:n.1679+5_1679+6insATTT
ENST00000647978.1:c.*1393+5_*1393+6insATTT	ENSP00000497658.1:n.*1393+5_*1393+6insATT...
ENST00000648260.1:c.1402-14988_1402-14987insATTT	ENSP00000497957.1:n.1402-14988_1402-14987...
ENST00000649406.1:c.1496+5_1496+6insATTT	ENSP00000497965.1:n.1496+5_1496+6insATTT
ENST00000649781.1:c.1496+5_1496+6insATTT	ENSP00000497203.1:n.1496+5_1496+6insATTT
ENST00000003084.10:c.1679+5_1679+6insATTT	ENSP00000003084.6:n.1679+5_1679+6insATTT
ENST00000426809.5:c.1589+5_1589+6insATTT	ENSP00000389119.1:n.1589+5_1589+6insATTT
NM_000492.3:c.1679+5_1679+6insATTT , LRG_663t1:c.1679+5_1679+6insATTT	NP_000483.3:n.1679+5_1679+6insATTT
XM_011515751.1:c.1769+5_1769+6insATTT	XP_011514053.1:n.1769+5_1769+6insATTT
XM_011515752.1:c.1769+5_1769+6insATTT	XP_011514054.1:n.1769+5_1769+6insATTT
XM_011515753.1:c.1436+5_1436+6insATTT	XP_011514055.1:n.1436+5_1436+6insATTT
XM_011515754.1:c.1436+5_1436+6insATTT	XP_011514056.1:n.1436+5_1436+6insATTT
NM_000492.4:c.1679+5_1679+6insATTT MANE Select	NP_000483.3:n.1679+5_1679+6insATTT