Canonical Allele Identifier: CA457228312

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1735219
• ClinVar RCV Id: RCV002355292
• MyVariant Identifiers: chr7:g.117282593T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642539T>G , CM000669.2:g.117642539T>G	GRCh38
NC_000007.13:g.117282593T>G , CM000669.1:g.117282593T>G	GRCh37
NC_000007.12:g.117069829T>G	NCBI36
NG_016465.4:g.181756T>G , LRG_663:g.181756T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*28T>G	ENSP00000497673.2:n.*28T>G
ENST00000647978.2:c.*3533T>G	ENSP00000497658.1:n.*3533T>G
ENST00000649781.2:c.3636T>G	ENSP00000497203.1:p.Ser1212=
ENST00000685018.2:c.3819T>G	ENSP00000510194.2:p.Ser1273=
ENST00000687278.2:c.*472T>G	ENSP00000509593.2:n.*472T>G
ENST00000699585.1:c.*28T>G	ENSP00000514456.1:n.*28T>G
ENST00000699598.1:c.3819T>G	ENSP00000514467.1:p.Ser1273=
ENST00000699599.1:c.3819T>G	ENSP00000514468.1:p.Ser1273=
ENST00000699600.1:c.*480T>G	ENSP00000514469.1:n.*480T>G
ENST00000699601.1:c.*2194T>G	ENSP00000514470.1:n.*2194T>G
ENST00000699602.1:c.3813T>G	ENSP00000514471.1:p.Ser1271=
ENST00000699604.1:c.*3643T>G	ENSP00000514472.1:n.*3643T>G
ENST00000699605.1:c.3393T>G	ENSP00000514473.1:p.Ser1131=
ENST00000685018.1:c.567T>G	ENSP00000510194.1:p.Ser189=
ENST00000687278.1:c.1606T>G	ENSP00000509593.1:n.1606T>G
ENST00000689011.1:c.401T>G
ENST00000003084.11:c.3819T>G MANE Select	ENSP00000003084.6:p.Ser1273=
ENST00000647720.1:c.1269T>G
ENST00000649781.1:c.3636T>G	ENSP00000497203.1:p.Ser1212=
ENST00000003084.10:c.3819T>G	ENSP00000003084.6:p.Ser1273=
ENST00000426809.5:c.3729T>G	ENSP00000389119.1:p.Ser1243=
NM_000492.3:c.3819T>G , LRG_663t1:c.3819T>G	NP_000483.3:p.Ser1273=
XM_011515751.1:c.3909T>G	XP_011514053.1:p.Ser1303=
XM_011515752.1:c.3909T>G	XP_011514054.1:p.Ser1303=
XM_011515753.1:c.3576T>G	XP_011514055.1:p.Ser1192=
XM_011515754.1:c.3576T>G	XP_011514056.1:p.Ser1192=
NM_000492.4:c.3819T>G MANE Select	NP_000483.3:p.Ser1273=