Canonical Allele Identifier: CA577222026

Gene: CFTR

Linked Data

• dbSNP Id: rs1279307851
• gnomAD v2: 7-117230726-C-CTA
• gnomAD v3: 7-117590672-C-CTA
• gnomAD v4: 7-117590672-C-CTA
• MyVariant Identifiers: chr7:g.117230726_117230727insTA (hg19) ; chr7:g.117590672_117590673insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590675_117590676dup , CM000669.2:g.117590675_117590676dup	GRCh38
NC_000007.13:g.117230729_117230730dup , CM000669.1:g.117230729_117230730dup	GRCh37
NC_000007.12:g.117017965_117017966dup	NCBI36
NG_016465.4:g.129892_129893dup , LRG_663:g.129892_129893dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1766+236_1766+237dup	ENSP00000497673.2:n.1766+236_1766+237dup
ENST00000647978.2:c.*1480+236_*1480+237dup	ENSP00000497658.1:n.*1480+236_*1480+237dup
ENST00000649781.2:c.1583+236_1583+237dup	ENSP00000497203.1:n.1583+236_1583+237dup
ENST00000685018.2:c.1766+236_1766+237dup	ENSP00000510194.2:n.1766+236_1766+237dup
ENST00000687278.2:c.1766+236_1766+237dup	ENSP00000509593.2:n.1766+236_1766+237dup
ENST00000699585.1:c.1766+236_1766+237dup	ENSP00000514456.1:n.1766+236_1766+237dup
ENST00000699598.1:c.1766+236_1766+237dup	ENSP00000514467.1:n.1766+236_1766+237dup
ENST00000699599.1:c.1766+236_1766+237dup	ENSP00000514468.1:n.1766+236_1766+237dup
ENST00000699600.1:c.1766+236_1766+237dup	ENSP00000514469.1:n.1766+236_1766+237dup
ENST00000699601.1:c.*66+236_*66+237dup	ENSP00000514470.1:n.*66+236_*66+237dup
ENST00000699602.1:c.1766+236_1766+237dup	ENSP00000514471.1:n.1766+236_1766+237dup
ENST00000699604.1:c.*1590+236_*1590+237dup	ENSP00000514472.1:n.*1590+236_*1590+237dup
ENST00000699605.1:c.1340+236_1340+237dup	ENSP00000514473.1:n.1340+236_1340+237dup
ENST00000003084.11:c.1766+236_1766+237dup MANE Select	ENSP00000003084.6:n.1766+236_1766+237dup
ENST00000647978.1:c.*1480+236_*1480+237dup	ENSP00000497658.1:n.*1480+236_*1480+237dup
ENST00000648260.1:c.1402-12151_1402-12150dup	ENSP00000497957.1:n.1402-12151_1402-12150dup
ENST00000649406.1:c.1583+236_1583+237dup	ENSP00000497965.1:n.1583+236_1583+237dup
ENST00000649781.1:c.1583+236_1583+237dup	ENSP00000497203.1:n.1583+236_1583+237dup
ENST00000003084.10:c.1766+236_1766+237dup	ENSP00000003084.6:n.1766+236_1766+237dup
ENST00000426809.5:c.1676+236_1676+237dup	ENSP00000389119.1:n.1676+236_1676+237dup
NM_000492.3:c.1766+236_1766+237dup , LRG_663t1:c.1766+236_1766+237dup	NP_000483.3:n.1766+236_1766+237dup
XM_011515751.1:c.1856+236_1856+237dup	XP_011514053.1:n.1856+236_1856+237dup
XM_011515752.1:c.1856+236_1856+237dup	XP_011514054.1:n.1856+236_1856+237dup
XM_011515753.1:c.1523+236_1523+237dup	XP_011514055.1:n.1523+236_1523+237dup
XM_011515754.1:c.1523+236_1523+237dup	XP_011514056.1:n.1523+236_1523+237dup
NM_000492.4:c.1766+236_1766+237dup MANE Select	NP_000483.3:n.1766+236_1766+237dup