Canonical Allele Identifier: CA326881

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53539
• ClinVar RCV Id: RCV001009452
• dbSNP Id: rs397508416
• MyVariant Identifiers: chr7:g.117243585G>T (hg19) ; chr7:g.117603531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603531G>T , CM000669.2:g.117603531G>T	GRCh38
NC_000007.13:g.117243585G>T , CM000669.1:g.117243585G>T	GRCh37
NC_000007.12:g.117030821G>T	NCBI36
NG_016465.4:g.142748G>T , LRG_663:g.142748G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2658-1G>T	ENSP00000497673.2:n.2658-1G>T
ENST00000647978.2:c.*2372-1G>T	ENSP00000497658.1:n.*2372-1G>T
ENST00000649781.2:c.2475-1G>T	ENSP00000497203.1:n.2475-1G>T
ENST00000685018.2:c.2658-1G>T	ENSP00000510194.2:n.2658-1G>T
ENST00000687278.2:c.2658-1G>T	ENSP00000509593.2:n.2658-1G>T
ENST00000699585.1:c.2658-1G>T	ENSP00000514456.1:n.2658-1G>T
ENST00000699598.1:c.2658-1G>T	ENSP00000514467.1:n.2658-1G>T
ENST00000699599.1:c.2658-1G>T	ENSP00000514468.1:n.2658-1G>T
ENST00000699600.1:c.2658-1G>T	ENSP00000514469.1:n.2658-1G>T
ENST00000699601.1:c.*958-1G>T	ENSP00000514470.1:n.*958-1G>T
ENST00000699602.1:c.2658-1G>T	ENSP00000514471.1:n.2658-1G>T
ENST00000699604.1:c.*2482-1G>T	ENSP00000514472.1:n.*2482-1G>T
ENST00000699605.1:c.2232-1G>T	ENSP00000514473.1:n.2232-1G>T
ENST00000687278.1:c.249-1G>T	ENSP00000509593.1:n.249-1G>T
ENST00000003084.11:c.2658-1G>T MANE Select	ENSP00000003084.6:n.2658-1G>T
ENST00000647720.1:c.308-1G>T
ENST00000648260.1:c.1440-1G>T	ENSP00000497957.1:n.1440-1G>T
ENST00000649406.1:c.2475-1G>T	ENSP00000497965.1:n.2475-1G>T
ENST00000649781.1:c.2475-1G>T	ENSP00000497203.1:n.2475-1G>T
ENST00000003084.10:c.2658-1G>T	ENSP00000003084.6:n.2658-1G>T
ENST00000426809.5:c.2568-1G>T	ENSP00000389119.1:n.2568-1G>T
NM_000492.3:c.2658-1G>T , LRG_663t1:c.2658-1G>T	NP_000483.3:n.2658-1G>T
XM_011515751.1:c.2748-1G>T	XP_011514053.1:n.2748-1G>T
XM_011515752.1:c.2748-1G>T	XP_011514054.1:n.2748-1G>T
XM_011515753.1:c.2415-1G>T	XP_011514055.1:n.2415-1G>T
XM_011515754.1:c.2415-1G>T	XP_011514056.1:n.2415-1G>T
NM_000492.4:c.2658-1G>T MANE Select	NP_000483.3:n.2658-1G>T