Canonical Allele Identifier: CA368995941

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267583C>A (hg19) ; chr7:g.117627529C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627529C>A , CM000669.2:g.117627529C>A	GRCh38
NC_000007.13:g.117267583C>A , CM000669.1:g.117267583C>A	GRCh37
NC_000007.12:g.117054819C>A	NCBI36
NG_016465.4:g.166746C>A , LRG_663:g.166746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3476C>A	ENSP00000497673.2:p.Ser1159Tyr
ENST00000647978.2:c.*3190C>A	ENSP00000497658.1:n.*3190C>A
ENST00000649781.2:c.3293C>A	ENSP00000497203.1:p.Ser1098Tyr
ENST00000685018.2:c.3476C>A	ENSP00000510194.2:p.Ser1159Tyr
ENST00000687278.2:c.*129C>A	ENSP00000509593.2:n.*129C>A
ENST00000699585.1:c.3476C>A	ENSP00000514456.1:p.Ser1159Tyr
ENST00000699598.1:c.3476C>A	ENSP00000514467.1:p.Ser1159Tyr
ENST00000699599.1:c.3476C>A	ENSP00000514468.1:p.Ser1159Tyr
ENST00000699600.1:c.*137C>A	ENSP00000514469.1:n.*137C>A
ENST00000699601.1:c.*1851C>A	ENSP00000514470.1:n.*1851C>A
ENST00000699602.1:c.3470C>A	ENSP00000514471.1:p.Ser1157Tyr
ENST00000699604.1:c.*3300C>A	ENSP00000514472.1:n.*3300C>A
ENST00000699605.1:c.3050C>A	ENSP00000514473.1:p.Ser1017Tyr
ENST00000685018.1:c.224C>A	ENSP00000510194.1:p.Ser75Tyr
ENST00000687278.1:c.1263C>A	ENSP00000509593.1:n.1263C>A
ENST00000689011.1:c.58C>A
ENST00000003084.11:c.3476C>A MANE Select	ENSP00000003084.6:p.Ser1159Tyr
ENST00000647720.1:c.1126C>A
ENST00000648260.1:c.2258C>A	ENSP00000497957.1:p.Ser753Tyr
ENST00000649406.1:c.3293C>A	ENSP00000497965.1:p.Ser1098Tyr
ENST00000649781.1:c.3293C>A	ENSP00000497203.1:p.Ser1098Tyr
ENST00000003084.10:c.3476C>A	ENSP00000003084.6:p.Ser1159Tyr
ENST00000426809.5:c.3386C>A	ENSP00000389119.1:p.Ser1129Tyr
ENST00000468795.1:c.301C>A
NM_000492.3:c.3476C>A , LRG_663t1:c.3476C>A	NP_000483.3:p.Ser1159Tyr
XM_011515751.1:c.3566C>A	XP_011514053.1:p.Ser1189Tyr
XM_011515752.1:c.3566C>A	XP_011514054.1:p.Ser1189Tyr
XM_011515753.1:c.3233C>A	XP_011514055.1:p.Ser1078Tyr
XM_011515754.1:c.3233C>A	XP_011514056.1:p.Ser1078Tyr
NM_000492.4:c.3476C>A MANE Select	NP_000483.3:p.Ser1159Tyr