Canonical Allele Identifier: CA368975391

Gene: CFTR

Linked Data

• ClinVar Variation Id: 818125
• ClinVar RCV Id: RCV001009419
• dbSNP Id: rs1584837173
• MyVariant Identifiers: chr7:g.117282612C>T (hg19) ; chr7:g.117642558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642558C>T , CM000669.2:g.117642558C>T	GRCh38
NC_000007.13:g.117282612C>T , CM000669.1:g.117282612C>T	GRCh37
NC_000007.12:g.117069848C>T	NCBI36
NG_016465.4:g.181775C>T , LRG_663:g.181775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*47C>T	ENSP00000497673.2:n.*47C>T
ENST00000647978.2:c.*3552C>T	ENSP00000497658.1:n.*3552C>T
ENST00000649781.2:c.3655C>T	ENSP00000497203.1:p.Gln1219Ter
ENST00000685018.2:c.3838C>T	ENSP00000510194.2:p.Gln1280Ter
ENST00000687278.2:c.*491C>T	ENSP00000509593.2:n.*491C>T
ENST00000699585.1:c.*47C>T	ENSP00000514456.1:n.*47C>T
ENST00000699598.1:c.3838C>T	ENSP00000514467.1:p.Gln1280Ter
ENST00000699599.1:c.3838C>T	ENSP00000514468.1:p.Gln1280Ter
ENST00000699600.1:c.*499C>T	ENSP00000514469.1:n.*499C>T
ENST00000699601.1:c.*2213C>T	ENSP00000514470.1:n.*2213C>T
ENST00000699602.1:c.3832C>T	ENSP00000514471.1:p.Gln1278Ter
ENST00000699604.1:c.*3662C>T	ENSP00000514472.1:n.*3662C>T
ENST00000699605.1:c.3412C>T	ENSP00000514473.1:p.Gln1138Ter
ENST00000685018.1:c.586C>T	ENSP00000510194.1:p.Gln196Ter
ENST00000687278.1:c.1625C>T	ENSP00000509593.1:n.1625C>T
ENST00000689011.1:c.420C>T
ENST00000003084.11:c.3838C>T MANE Select	ENSP00000003084.6:p.Gln1280Ter
ENST00000647720.1:c.1288C>T
ENST00000649781.1:c.3655C>T	ENSP00000497203.1:p.Gln1219Ter
ENST00000003084.10:c.3838C>T	ENSP00000003084.6:p.Gln1280Ter
ENST00000426809.5:c.3748C>T	ENSP00000389119.1:p.Gln1250Ter
NM_000492.3:c.3838C>T , LRG_663t1:c.3838C>T	NP_000483.3:p.Gln1280Ter
XM_011515751.1:c.3928C>T	XP_011514053.1:p.Gln1310Ter
XM_011515752.1:c.3928C>T	XP_011514054.1:p.Gln1310Ter
XM_011515753.1:c.3595C>T	XP_011514055.1:p.Gln1199Ter
XM_011515754.1:c.3595C>T	XP_011514056.1:p.Gln1199Ter
NM_000492.4:c.3838C>T MANE Select	NP_000483.3:p.Gln1280Ter