Canonical Allele Identifier: CA457229352

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1618260
• ClinVar RCV Id: RCV002081940
• dbSNP Id: rs1377312539
• gnomAD v4: 7-117610533-G-T
• MyVariant Identifiers: chr7:g.117250587G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610533G>T , CM000669.2:g.117610533G>T	GRCh38
NC_000007.13:g.117250587G>T , CM000669.1:g.117250587G>T	GRCh37
NC_000007.12:g.117037823G>T	NCBI36
NG_016465.4:g.149750G>T , LRG_663:g.149750G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3003G>T	ENSP00000497673.2:p.Val1001=
ENST00000647978.2:c.*2717G>T	ENSP00000497658.1:n.*2717G>T
ENST00000649781.2:c.2820G>T	ENSP00000497203.1:p.Val940=
ENST00000685018.2:c.3003G>T	ENSP00000510194.2:p.Val1001=
ENST00000687278.2:c.3003G>T	ENSP00000509593.2:p.Val1001=
ENST00000699585.1:c.3003G>T	ENSP00000514456.1:p.Val1001=
ENST00000699598.1:c.3003G>T	ENSP00000514467.1:p.Val1001=
ENST00000699599.1:c.3003G>T	ENSP00000514468.1:p.Val1001=
ENST00000699600.1:c.3003G>T	ENSP00000514469.1:p.Val1001=
ENST00000699601.1:c.*1303G>T	ENSP00000514470.1:n.*1303G>T
ENST00000699602.1:c.3003G>T	ENSP00000514471.1:p.Val1001=
ENST00000699604.1:c.*2827G>T	ENSP00000514472.1:n.*2827G>T
ENST00000699605.1:c.2577G>T	ENSP00000514473.1:p.Val859=
ENST00000687278.1:c.594G>T	ENSP00000509593.1:p.Val198=
ENST00000003084.11:c.3003G>T MANE Select	ENSP00000003084.6:p.Val1001=
ENST00000647720.1:c.653G>T
ENST00000648260.1:c.1785G>T	ENSP00000497957.1:p.Val595=
ENST00000649406.1:c.2820G>T	ENSP00000497965.1:p.Val940=
ENST00000649781.1:c.2820G>T	ENSP00000497203.1:p.Val940=
ENST00000003084.10:c.3003G>T	ENSP00000003084.6:p.Val1001=
ENST00000426809.5:c.2913G>T	ENSP00000389119.1:p.Val971=
NM_000492.3:c.3003G>T , LRG_663t1:c.3003G>T	NP_000483.3:p.Val1001=
XM_011515751.1:c.3093G>T	XP_011514053.1:p.Val1031=
XM_011515752.1:c.3093G>T	XP_011514054.1:p.Val1031=
XM_011515753.1:c.2760G>T	XP_011514055.1:p.Val920=
XM_011515754.1:c.2760G>T	XP_011514056.1:p.Val920=
NM_000492.4:c.3003G>T MANE Select	NP_000483.3:p.Val1001=