Canonical Allele Identifier: CA4450834

Gene: CFTR

Linked Data

• dbSNP Id: rs751348867
• ExAC: 7:117176637 T / G
• gnomAD v2: 7-117176637-T-G
• gnomAD v4: 7-117536583-T-G
• MyVariant Identifiers: chr7:g.117176637T>G (hg19) ; chr7:g.117536583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117536583T>G , CM000669.2:g.117536583T>G	GRCh38
NC_000007.13:g.117176637T>G , CM000669.1:g.117176637T>G	GRCh37
NC_000007.12:g.116963873T>G	NCBI36
NG_016465.4:g.75800T>G , LRG_663:g.75800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.779T>G	ENSP00000497673.2:p.Val260Gly
ENST00000647978.2:c.*676T>G	ENSP00000497658.1:n.*676T>G
ENST00000649781.2:c.779T>G	ENSP00000497203.1:p.Val260Gly
ENST00000685018.2:c.779T>G	ENSP00000510194.2:p.Val260Gly
ENST00000687278.2:c.779T>G	ENSP00000509593.2:p.Val260Gly
ENST00000699585.1:c.779T>G	ENSP00000514456.1:p.Val260Gly
ENST00000699596.1:c.779T>G	ENSP00000514465.1:p.Val260Gly
ENST00000699597.1:c.779T>G	ENSP00000514466.1:p.Val260Gly
ENST00000699598.1:c.779T>G	ENSP00000514467.1:p.Val260Gly
ENST00000699599.1:c.779T>G	ENSP00000514468.1:p.Val260Gly
ENST00000699600.1:c.779T>G	ENSP00000514469.1:p.Val260Gly
ENST00000699601.1:c.779T>G	ENSP00000514470.1:p.Val260Gly
ENST00000699602.1:c.779T>G	ENSP00000514471.1:p.Val260Gly
ENST00000699604.1:c.*603T>G	ENSP00000514472.1:n.*603T>G
ENST00000699605.1:c.536T>G	ENSP00000514473.1:p.Val179Gly
ENST00000003084.11:c.779T>G MANE Select	ENSP00000003084.6:p.Val260Gly
ENST00000647978.1:c.*676T>G	ENSP00000497658.1:n.*676T>G
ENST00000648260.1:c.779T>G	ENSP00000497957.1:p.Val260Gly
ENST00000649406.1:c.779T>G	ENSP00000497965.1:p.Val260Gly
ENST00000649781.1:c.779T>G	ENSP00000497203.1:p.Val260Gly
ENST00000673785.1:c.536T>G	ENSP00000501235.1:p.Val179Gly
ENST00000003084.10:c.779T>G	ENSP00000003084.6:p.Val260Gly
ENST00000426809.5:c.689T>G	ENSP00000389119.1:p.Val230Gly
NM_000492.3:c.779T>G , LRG_663t1:c.779T>G	NP_000483.3:p.Val260Gly
XM_011515751.1:c.869T>G	XP_011514053.1:p.Val290Gly
XM_011515752.1:c.869T>G	XP_011514054.1:p.Val290Gly
XM_011515753.1:c.536T>G	XP_011514055.1:p.Val179Gly
XM_011515754.1:c.536T>G	XP_011514056.1:p.Val179Gly
NM_000492.4:c.779T>G MANE Select	NP_000483.3:p.Val260Gly