Canonical Allele Identifier: CA457231213

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1732614
• ClinVar RCV Id: RCV002454880
• MyVariant Identifiers: chr7:g.117267659T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627605T>C , CM000669.2:g.117627605T>C	GRCh38
NC_000007.13:g.117267659T>C , CM000669.1:g.117267659T>C	GRCh37
NC_000007.12:g.117054895T>C	NCBI36
NG_016465.4:g.166822T>C , LRG_663:g.166822T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+35T>C	ENSP00000497673.2:n.3517+35T>C
ENST00000647978.2:c.*3266T>C	ENSP00000497658.1:n.*3266T>C
ENST00000649781.2:c.3369T>C	ENSP00000497203.1:p.Asn1123=
ENST00000685018.2:c.3552T>C	ENSP00000510194.2:p.Asn1184=
ENST00000687278.2:c.*205T>C	ENSP00000509593.2:n.*205T>C
ENST00000699585.1:c.3517+35T>C	ENSP00000514456.1:n.3517+35T>C
ENST00000699598.1:c.3552T>C	ENSP00000514467.1:p.Asn1184=
ENST00000699599.1:c.3552T>C	ENSP00000514468.1:p.Asn1184=
ENST00000699600.1:c.*213T>C	ENSP00000514469.1:n.*213T>C
ENST00000699601.1:c.*1927T>C	ENSP00000514470.1:n.*1927T>C
ENST00000699602.1:c.3546T>C	ENSP00000514471.1:p.Asn1182=
ENST00000699604.1:c.*3376T>C	ENSP00000514472.1:n.*3376T>C
ENST00000699605.1:c.3126T>C	ENSP00000514473.1:p.Asn1042=
ENST00000685018.1:c.300T>C	ENSP00000510194.1:p.Asn100=
ENST00000687278.1:c.1339T>C	ENSP00000509593.1:n.1339T>C
ENST00000689011.1:c.134T>C
ENST00000003084.11:c.3552T>C MANE Select	ENSP00000003084.6:p.Asn1184=
ENST00000647720.1:c.1167+35T>C
ENST00000648260.1:c.2334T>C	ENSP00000497957.1:p.Asn778=
ENST00000649406.1:c.3369T>C	ENSP00000497965.1:p.Asn1123=
ENST00000649781.1:c.3369T>C	ENSP00000497203.1:p.Asn1123=
ENST00000003084.10:c.3552T>C	ENSP00000003084.6:p.Asn1184=
ENST00000426809.5:c.3462T>C	ENSP00000389119.1:p.Asn1154=
ENST00000468795.1:c.377T>C
NM_000492.3:c.3552T>C , LRG_663t1:c.3552T>C	NP_000483.3:p.Asn1184=
XM_011515751.1:c.3642T>C	XP_011514053.1:p.Asn1214=
XM_011515752.1:c.3642T>C	XP_011514054.1:p.Asn1214=
XM_011515753.1:c.3309T>C	XP_011514055.1:p.Asn1103=
XM_011515754.1:c.3309T>C	XP_011514056.1:p.Asn1103=
NM_000492.4:c.3552T>C MANE Select	NP_000483.3:p.Asn1184=