Canonical Allele Identifier: CA368974474

Gene: CFTR

Linked Data

• dbSNP Id: rs1800128
• MyVariant Identifiers: chr7:g.117282509A>T (hg19) ; chr7:g.117642455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642455A>T , CM000669.2:g.117642455A>T	GRCh38
NC_000007.13:g.117282509A>T , CM000669.1:g.117282509A>T	GRCh37
NC_000007.12:g.117069745A>T	NCBI36
NG_016465.4:g.181672A>T , LRG_663:g.181672A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3535A>T	ENSP00000497673.2:p.Asn1179Tyr
ENST00000647978.2:c.*3449A>T	ENSP00000497658.1:n.*3449A>T
ENST00000649781.2:c.3552A>T	ENSP00000497203.1:p.Arg1184Ser
ENST00000685018.2:c.3735A>T	ENSP00000510194.2:p.Arg1245Ser
ENST00000687278.2:c.*388A>T	ENSP00000509593.2:n.*388A>T
ENST00000699585.1:c.3535A>T	ENSP00000514456.1:p.Asn1179Tyr
ENST00000699598.1:c.3735A>T	ENSP00000514467.1:p.Arg1245Ser
ENST00000699599.1:c.3735A>T	ENSP00000514468.1:p.Arg1245Ser
ENST00000699600.1:c.*396A>T	ENSP00000514469.1:n.*396A>T
ENST00000699601.1:c.*2110A>T	ENSP00000514470.1:n.*2110A>T
ENST00000699602.1:c.3729A>T	ENSP00000514471.1:p.Arg1243Ser
ENST00000699604.1:c.*3559A>T	ENSP00000514472.1:n.*3559A>T
ENST00000699605.1:c.3309A>T	ENSP00000514473.1:p.Arg1103Ser
ENST00000685018.1:c.483A>T	ENSP00000510194.1:p.Arg161Ser
ENST00000687278.1:c.1522A>T	ENSP00000509593.1:n.1522A>T
ENST00000689011.1:c.317A>T
ENST00000003084.11:c.3735A>T MANE Select	ENSP00000003084.6:p.Arg1245Ser
ENST00000647720.1:c.1185A>T
ENST00000649781.1:c.3552A>T	ENSP00000497203.1:p.Arg1184Ser
ENST00000003084.10:c.3735A>T	ENSP00000003084.6:p.Arg1245Ser
ENST00000426809.5:c.3645A>T	ENSP00000389119.1:p.Arg1215Ser
NM_000492.3:c.3735A>T , LRG_663t1:c.3735A>T	NP_000483.3:p.Arg1245Ser
XM_011515751.1:c.3825A>T	XP_011514053.1:p.Arg1275Ser
XM_011515752.1:c.3825A>T	XP_011514054.1:p.Arg1275Ser
XM_011515753.1:c.3492A>T	XP_011514055.1:p.Arg1164Ser
XM_011515754.1:c.3492A>T	XP_011514056.1:p.Arg1164Ser
NM_000492.4:c.3735A>T MANE Select	NP_000483.3:p.Arg1245Ser