Canonical Allele Identifier: CA368986854

Gene: CFTR

Linked Data

• gnomAD v4: 7-117603663-G-T
• MyVariant Identifiers: chr7:g.117243717G>T (hg19) ; chr7:g.117603663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603663G>T , CM000669.2:g.117603663G>T	GRCh38
NC_000007.13:g.117243717G>T , CM000669.1:g.117243717G>T	GRCh37
NC_000007.12:g.117030953G>T	NCBI36
NG_016465.4:g.142880G>T , LRG_663:g.142880G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2789G>T	ENSP00000497673.2:p.Gly930Val
ENST00000647978.2:c.*2503G>T	ENSP00000497658.1:n.*2503G>T
ENST00000649781.2:c.2606G>T	ENSP00000497203.1:p.Gly869Val
ENST00000685018.2:c.2789G>T	ENSP00000510194.2:p.Gly930Val
ENST00000687278.2:c.2789G>T	ENSP00000509593.2:p.Gly930Val
ENST00000699585.1:c.2789G>T	ENSP00000514456.1:p.Gly930Val
ENST00000699598.1:c.2789G>T	ENSP00000514467.1:p.Gly930Val
ENST00000699599.1:c.2789G>T	ENSP00000514468.1:p.Gly930Val
ENST00000699600.1:c.2789G>T	ENSP00000514469.1:p.Gly930Val
ENST00000699601.1:c.*1089G>T	ENSP00000514470.1:n.*1089G>T
ENST00000699602.1:c.2789G>T	ENSP00000514471.1:p.Gly930Val
ENST00000699604.1:c.*2613G>T	ENSP00000514472.1:n.*2613G>T
ENST00000699605.1:c.2363G>T	ENSP00000514473.1:p.Gly788Val
ENST00000687278.1:c.380G>T	ENSP00000509593.1:p.Gly127Val
ENST00000003084.11:c.2789G>T MANE Select	ENSP00000003084.6:p.Gly930Val
ENST00000647720.1:c.439G>T
ENST00000648260.1:c.1571G>T	ENSP00000497957.1:p.Gly524Val
ENST00000649406.1:c.2606G>T	ENSP00000497965.1:p.Gly869Val
ENST00000649781.1:c.2606G>T	ENSP00000497203.1:p.Gly869Val
ENST00000003084.10:c.2789G>T	ENSP00000003084.6:p.Gly930Val
ENST00000426809.5:c.2699G>T	ENSP00000389119.1:p.Gly900Val
NM_000492.3:c.2789G>T , LRG_663t1:c.2789G>T	NP_000483.3:p.Gly930Val
XM_011515751.1:c.2879G>T	XP_011514053.1:p.Gly960Val
XM_011515752.1:c.2879G>T	XP_011514054.1:p.Gly960Val
XM_011515753.1:c.2546G>T	XP_011514055.1:p.Gly849Val
XM_011515754.1:c.2546G>T	XP_011514056.1:p.Gly849Val
NM_000492.4:c.2789G>T MANE Select	NP_000483.3:p.Gly930Val