Canonical Allele Identifier: CA368997164

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267715T>G (hg19) ; chr7:g.117627661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627661T>G , CM000669.2:g.117627661T>G	GRCh38
NC_000007.13:g.117267715T>G , CM000669.1:g.117267715T>G	GRCh37
NC_000007.12:g.117054951T>G	NCBI36
NG_016465.4:g.166878T>G , LRG_663:g.166878T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+91T>G	ENSP00000497673.2:n.3517+91T>G
ENST00000647978.2:c.*3322T>G	ENSP00000497658.1:n.*3322T>G
ENST00000649781.2:c.3425T>G	ENSP00000497203.1:p.Ile1142Ser
ENST00000685018.2:c.3608T>G	ENSP00000510194.2:p.Ile1203Ser
ENST00000687278.2:c.*261T>G	ENSP00000509593.2:n.*261T>G
ENST00000699585.1:c.3517+91T>G	ENSP00000514456.1:n.3517+91T>G
ENST00000699598.1:c.3608T>G	ENSP00000514467.1:p.Ile1203Ser
ENST00000699599.1:c.3608T>G	ENSP00000514468.1:p.Ile1203Ser
ENST00000699600.1:c.*269T>G	ENSP00000514469.1:n.*269T>G
ENST00000699601.1:c.*1983T>G	ENSP00000514470.1:n.*1983T>G
ENST00000699602.1:c.3602T>G	ENSP00000514471.1:p.Ile1201Ser
ENST00000699604.1:c.*3432T>G	ENSP00000514472.1:n.*3432T>G
ENST00000699605.1:c.3182T>G	ENSP00000514473.1:p.Ile1061Ser
ENST00000685018.1:c.356T>G	ENSP00000510194.1:p.Ile119Ser
ENST00000687278.1:c.1395T>G	ENSP00000509593.1:n.1395T>G
ENST00000689011.1:c.190T>G
ENST00000003084.11:c.3608T>G MANE Select	ENSP00000003084.6:p.Ile1203Ser
ENST00000647720.1:c.1167+91T>G
ENST00000648260.1:c.2390T>G	ENSP00000497957.1:p.Ile797Ser
ENST00000649406.1:c.3425T>G	ENSP00000497965.1:p.Ile1142Ser
ENST00000649781.1:c.3425T>G	ENSP00000497203.1:p.Ile1142Ser
ENST00000003084.10:c.3608T>G	ENSP00000003084.6:p.Ile1203Ser
ENST00000426809.5:c.3518T>G	ENSP00000389119.1:p.Ile1173Ser
ENST00000468795.1:c.433T>G
NM_000492.3:c.3608T>G , LRG_663t1:c.3608T>G	NP_000483.3:p.Ile1203Ser
XM_011515751.1:c.3698T>G	XP_011514053.1:p.Ile1233Ser
XM_011515752.1:c.3698T>G	XP_011514054.1:p.Ile1233Ser
XM_011515753.1:c.3365T>G	XP_011514055.1:p.Ile1122Ser
XM_011515754.1:c.3365T>G	XP_011514056.1:p.Ile1122Ser
NM_000492.4:c.3608T>G MANE Select	NP_000483.3:p.Ile1203Ser