Canonical Allele Identifier: CA368974477

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282510A>G (hg19) ; chr7:g.117642456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642456A>G , CM000669.2:g.117642456A>G	GRCh38
NC_000007.13:g.117282510A>G , CM000669.1:g.117282510A>G	GRCh37
NC_000007.12:g.117069746A>G	NCBI36
NG_016465.4:g.181673A>G , LRG_663:g.181673A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3536A>G	ENSP00000497673.2:p.Asn1179Ser
ENST00000647978.2:c.*3450A>G	ENSP00000497658.1:n.*3450A>G
ENST00000649781.2:c.3553A>G	ENSP00000497203.1:p.Thr1185Ala
ENST00000685018.2:c.3736A>G	ENSP00000510194.2:p.Thr1246Ala
ENST00000687278.2:c.*389A>G	ENSP00000509593.2:n.*389A>G
ENST00000699585.1:c.3536A>G	ENSP00000514456.1:p.Asn1179Ser
ENST00000699598.1:c.3736A>G	ENSP00000514467.1:p.Thr1246Ala
ENST00000699599.1:c.3736A>G	ENSP00000514468.1:p.Thr1246Ala
ENST00000699600.1:c.*397A>G	ENSP00000514469.1:n.*397A>G
ENST00000699601.1:c.*2111A>G	ENSP00000514470.1:n.*2111A>G
ENST00000699602.1:c.3730A>G	ENSP00000514471.1:p.Thr1244Ala
ENST00000699604.1:c.*3560A>G	ENSP00000514472.1:n.*3560A>G
ENST00000699605.1:c.3310A>G	ENSP00000514473.1:p.Thr1104Ala
ENST00000685018.1:c.484A>G	ENSP00000510194.1:p.Thr162Ala
ENST00000687278.1:c.1523A>G	ENSP00000509593.1:n.1523A>G
ENST00000689011.1:c.318A>G
ENST00000003084.11:c.3736A>G MANE Select	ENSP00000003084.6:p.Thr1246Ala
ENST00000647720.1:c.1186A>G
ENST00000649781.1:c.3553A>G	ENSP00000497203.1:p.Thr1185Ala
ENST00000003084.10:c.3736A>G	ENSP00000003084.6:p.Thr1246Ala
ENST00000426809.5:c.3646A>G	ENSP00000389119.1:p.Thr1216Ala
NM_000492.3:c.3736A>G , LRG_663t1:c.3736A>G	NP_000483.3:p.Thr1246Ala
XM_011515751.1:c.3826A>G	XP_011514053.1:p.Thr1276Ala
XM_011515752.1:c.3826A>G	XP_011514054.1:p.Thr1276Ala
XM_011515753.1:c.3493A>G	XP_011514055.1:p.Thr1165Ala
XM_011515754.1:c.3493A>G	XP_011514056.1:p.Thr1165Ala
NM_000492.4:c.3736A>G MANE Select	NP_000483.3:p.Thr1246Ala