Canonical Allele Identifier: CA368985991

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1717676
• ClinVar RCV Id: RCV002297701
• MyVariant Identifiers: chr7:g.117242896T>A (hg19) ; chr7:g.117602842T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602842T>A , CM000669.2:g.117602842T>A	GRCh38
NC_000007.13:g.117242896T>A , CM000669.1:g.117242896T>A	GRCh37
NC_000007.12:g.117030132T>A	NCBI36
NG_016465.4:g.142059T>A , LRG_663:g.142059T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2636T>A	ENSP00000497673.2:p.Val879Asp
ENST00000647978.2:c.*2350T>A	ENSP00000497658.1:n.*2350T>A
ENST00000649781.2:c.2453T>A	ENSP00000497203.1:p.Val818Asp
ENST00000685018.2:c.2636T>A	ENSP00000510194.2:p.Val879Asp
ENST00000687278.2:c.2636T>A	ENSP00000509593.2:p.Val879Asp
ENST00000699585.1:c.2636T>A	ENSP00000514456.1:p.Val879Asp
ENST00000699598.1:c.2636T>A	ENSP00000514467.1:p.Val879Asp
ENST00000699599.1:c.2636T>A	ENSP00000514468.1:p.Val879Asp
ENST00000699600.1:c.2636T>A	ENSP00000514469.1:p.Val879Asp
ENST00000699601.1:c.*936T>A	ENSP00000514470.1:n.*936T>A
ENST00000699602.1:c.2636T>A	ENSP00000514471.1:p.Val879Asp
ENST00000699604.1:c.*2460T>A	ENSP00000514472.1:n.*2460T>A
ENST00000699605.1:c.2210T>A	ENSP00000514473.1:p.Val737Asp
ENST00000687278.1:c.227T>A	ENSP00000509593.1:p.Val76Asp
ENST00000003084.11:c.2636T>A MANE Select	ENSP00000003084.6:p.Val879Asp
ENST00000647720.1:c.286T>A
ENST00000648260.1:c.1418T>A	ENSP00000497957.1:p.Val473Asp
ENST00000649406.1:c.2453T>A	ENSP00000497965.1:p.Val818Asp
ENST00000649781.1:c.2453T>A	ENSP00000497203.1:p.Val818Asp
ENST00000003084.10:c.2636T>A	ENSP00000003084.6:p.Val879Asp
ENST00000426809.5:c.2546T>A	ENSP00000389119.1:p.Val849Asp
NM_000492.3:c.2636T>A , LRG_663t1:c.2636T>A	NP_000483.3:p.Val879Asp
XM_011515751.1:c.2726T>A	XP_011514053.1:p.Val909Asp
XM_011515752.1:c.2726T>A	XP_011514054.1:p.Val909Asp
XM_011515753.1:c.2393T>A	XP_011514055.1:p.Val798Asp
XM_011515754.1:c.2393T>A	XP_011514056.1:p.Val798Asp
NM_000492.4:c.2636T>A MANE Select	NP_000483.3:p.Val879Asp