Canonical Allele Identifier: CA457229771

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292913T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652859T>G , CM000669.2:g.117652859T>G	GRCh38
NC_000007.13:g.117292913T>G , CM000669.1:g.117292913T>G	GRCh37
NC_000007.12:g.117080149T>G	NCBI36
NG_016465.4:g.192076T>G , LRG_663:g.192076T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*100T>G	ENSP00000497673.2:n.*100T>G
ENST00000647978.2:c.*3605T>G	ENSP00000497658.1:n.*3605T>G
ENST00000649781.2:c.3708T>G	ENSP00000497203.1:p.Ser1236=
ENST00000685018.2:c.*104T>G	ENSP00000510194.2:n.*104T>G
ENST00000687278.2:c.*544T>G	ENSP00000509593.2:n.*544T>G
ENST00000699585.1:c.*100T>G	ENSP00000514456.1:n.*100T>G
ENST00000699598.1:c.3891T>G	ENSP00000514467.1:p.Ser1297=
ENST00000699599.1:c.*104T>G	ENSP00000514468.1:n.*104T>G
ENST00000699600.1:c.*552T>G	ENSP00000514469.1:n.*552T>G
ENST00000699601.1:c.*2266T>G	ENSP00000514470.1:n.*2266T>G
ENST00000699602.1:c.3885T>G	ENSP00000514471.1:p.Ser1295=
ENST00000699604.1:c.*3715T>G	ENSP00000514472.1:n.*3715T>G
ENST00000699605.1:c.3465T>G	ENSP00000514473.1:p.Ser1155=
ENST00000699606.1:n.2059T>G
ENST00000685018.1:c.755T>G	ENSP00000510194.1:n.755T>G
ENST00000687278.1:c.1678T>G	ENSP00000509593.1:n.1678T>G
ENST00000689011.1:c.473T>G
ENST00000003084.11:c.3891T>G MANE Select	ENSP00000003084.6:p.Ser1297=
ENST00000647720.1:c.1341T>G
ENST00000649781.1:c.3708T>G	ENSP00000497203.1:p.Ser1236=
ENST00000003084.10:c.3891T>G	ENSP00000003084.6:p.Ser1297=
ENST00000426809.5:c.3801T>G	ENSP00000389119.1:p.Ser1267=
ENST00000600166.1:c.17T>G
NM_000492.3:c.3891T>G , LRG_663t1:c.3891T>G	NP_000483.3:p.Ser1297=
XM_011515751.1:c.3981T>G	XP_011514053.1:p.Ser1327=
XM_011515752.1:c.3981T>G	XP_011514054.1:p.Ser1327=
XM_011515753.1:c.3648T>G	XP_011514055.1:p.Ser1216=
XM_011515754.1:c.3648T>G	XP_011514056.1:p.Ser1216=
NM_000492.4:c.3891T>G MANE Select	NP_000483.3:p.Ser1297=