Canonical Allele Identifier: CA368993654

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117254745C>A (hg19) ; chr7:g.117614691C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614691C>A , CM000669.2:g.117614691C>A	GRCh38
NC_000007.13:g.117254745C>A , CM000669.1:g.117254745C>A	GRCh37
NC_000007.12:g.117041981C>A	NCBI36
NG_016465.4:g.153908C>A , LRG_663:g.153908C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3446C>A	ENSP00000497673.2:p.Ser1149Tyr
ENST00000647978.2:c.*3160C>A	ENSP00000497658.1:n.*3160C>A
ENST00000649781.2:c.3263C>A	ENSP00000497203.1:p.Ser1088Tyr
ENST00000685018.2:c.3446C>A	ENSP00000510194.2:p.Ser1149Tyr
ENST00000687278.2:c.3446C>A	ENSP00000509593.2:p.Ser1149Tyr
ENST00000699585.1:c.3446C>A	ENSP00000514456.1:p.Ser1149Tyr
ENST00000699598.1:c.3446C>A	ENSP00000514467.1:p.Ser1149Tyr
ENST00000699599.1:c.3446C>A	ENSP00000514468.1:p.Ser1149Tyr
ENST00000699600.1:c.3446C>A	ENSP00000514469.1:p.Ser1149Tyr
ENST00000699601.1:c.*1821C>A	ENSP00000514470.1:n.*1821C>A
ENST00000699602.1:c.3440C>A	ENSP00000514471.1:p.Ser1147Tyr
ENST00000699604.1:c.*3270C>A	ENSP00000514472.1:n.*3270C>A
ENST00000699605.1:c.3020C>A	ENSP00000514473.1:p.Ser1007Tyr
ENST00000685018.1:c.194C>A	ENSP00000510194.1:p.Ser65Tyr
ENST00000687278.1:c.1037C>A	ENSP00000509593.1:p.Ser346Tyr
ENST00000689011.1:c.28C>A
ENST00000003084.11:c.3446C>A MANE Select	ENSP00000003084.6:p.Ser1149Tyr
ENST00000647720.1:c.1096C>A
ENST00000648260.1:c.2228C>A	ENSP00000497957.1:p.Ser743Tyr
ENST00000649406.1:c.3263C>A	ENSP00000497965.1:p.Ser1088Tyr
ENST00000649781.1:c.3263C>A	ENSP00000497203.1:p.Ser1088Tyr
ENST00000003084.10:c.3446C>A	ENSP00000003084.6:p.Ser1149Tyr
ENST00000426809.5:c.3356C>A	ENSP00000389119.1:p.Ser1119Tyr
ENST00000468795.1:c.271C>A
NM_000492.3:c.3446C>A , LRG_663t1:c.3446C>A	NP_000483.3:p.Ser1149Tyr
XM_011515751.1:c.3536C>A	XP_011514053.1:p.Ser1179Tyr
XM_011515752.1:c.3536C>A	XP_011514054.1:p.Ser1179Tyr
XM_011515753.1:c.3203C>A	XP_011514055.1:p.Ser1068Tyr
XM_011515754.1:c.3203C>A	XP_011514056.1:p.Ser1068Tyr
NM_000492.4:c.3446C>A MANE Select	NP_000483.3:p.Ser1149Tyr