Canonical Allele Identifier: CA368975172

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282592C>A (hg19) ; chr7:g.117642538C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642538C>A , CM000669.2:g.117642538C>A	GRCh38
NC_000007.13:g.117282592C>A , CM000669.1:g.117282592C>A	GRCh37
NC_000007.12:g.117069828C>A	NCBI36
NG_016465.4:g.181755C>A , LRG_663:g.181755C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*27C>A	ENSP00000497673.2:n.*27C>A
ENST00000647978.2:c.*3532C>A	ENSP00000497658.1:n.*3532C>A
ENST00000649781.2:c.3635C>A	ENSP00000497203.1:p.Ser1212Tyr
ENST00000685018.2:c.3818C>A	ENSP00000510194.2:p.Ser1273Tyr
ENST00000687278.2:c.*471C>A	ENSP00000509593.2:n.*471C>A
ENST00000699585.1:c.*27C>A	ENSP00000514456.1:n.*27C>A
ENST00000699598.1:c.3818C>A	ENSP00000514467.1:p.Ser1273Tyr
ENST00000699599.1:c.3818C>A	ENSP00000514468.1:p.Ser1273Tyr
ENST00000699600.1:c.*479C>A	ENSP00000514469.1:n.*479C>A
ENST00000699601.1:c.*2193C>A	ENSP00000514470.1:n.*2193C>A
ENST00000699602.1:c.3812C>A	ENSP00000514471.1:p.Ser1271Tyr
ENST00000699604.1:c.*3642C>A	ENSP00000514472.1:n.*3642C>A
ENST00000699605.1:c.3392C>A	ENSP00000514473.1:p.Ser1131Tyr
ENST00000685018.1:c.566C>A	ENSP00000510194.1:p.Ser189Tyr
ENST00000687278.1:c.1605C>A	ENSP00000509593.1:n.1605C>A
ENST00000689011.1:c.400C>A
ENST00000003084.11:c.3818C>A MANE Select	ENSP00000003084.6:p.Ser1273Tyr
ENST00000647720.1:c.1268C>A
ENST00000649781.1:c.3635C>A	ENSP00000497203.1:p.Ser1212Tyr
ENST00000003084.10:c.3818C>A	ENSP00000003084.6:p.Ser1273Tyr
ENST00000426809.5:c.3728C>A	ENSP00000389119.1:p.Ser1243Tyr
NM_000492.3:c.3818C>A , LRG_663t1:c.3818C>A	NP_000483.3:p.Ser1273Tyr
XM_011515751.1:c.3908C>A	XP_011514053.1:p.Ser1303Tyr
XM_011515752.1:c.3908C>A	XP_011514054.1:p.Ser1303Tyr
XM_011515753.1:c.3575C>A	XP_011514055.1:p.Ser1192Tyr
XM_011515754.1:c.3575C>A	XP_011514056.1:p.Ser1192Tyr
NM_000492.4:c.3818C>A MANE Select	NP_000483.3:p.Ser1273Tyr