Canonical Allele Identifier: CA368974504

Gene: CFTR

Linked Data

• dbSNP Id: rs2116166825
• MyVariant Identifiers: chr7:g.117282516T>C (hg19) ; chr7:g.117642462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642462T>C , CM000669.2:g.117642462T>C	GRCh38
NC_000007.13:g.117282516T>C , CM000669.1:g.117282516T>C	GRCh37
NC_000007.12:g.117069752T>C	NCBI36
NG_016465.4:g.181679T>C , LRG_663:g.181679T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3542T>C	ENSP00000497673.2:p.Ile1181Thr
ENST00000647978.2:c.*3456T>C	ENSP00000497658.1:n.*3456T>C
ENST00000649781.2:c.3559T>C	ENSP00000497203.1:p.Ser1187Pro
ENST00000685018.2:c.3742T>C	ENSP00000510194.2:p.Ser1248Pro
ENST00000687278.2:c.*395T>C	ENSP00000509593.2:n.*395T>C
ENST00000699585.1:c.3542T>C	ENSP00000514456.1:p.Ile1181Thr
ENST00000699598.1:c.3742T>C	ENSP00000514467.1:p.Ser1248Pro
ENST00000699599.1:c.3742T>C	ENSP00000514468.1:p.Ser1248Pro
ENST00000699600.1:c.*403T>C	ENSP00000514469.1:n.*403T>C
ENST00000699601.1:c.*2117T>C	ENSP00000514470.1:n.*2117T>C
ENST00000699602.1:c.3736T>C	ENSP00000514471.1:p.Ser1246Pro
ENST00000699604.1:c.*3566T>C	ENSP00000514472.1:n.*3566T>C
ENST00000699605.1:c.3316T>C	ENSP00000514473.1:p.Ser1106Pro
ENST00000685018.1:c.490T>C	ENSP00000510194.1:p.Ser164Pro
ENST00000687278.1:c.1529T>C	ENSP00000509593.1:n.1529T>C
ENST00000689011.1:c.324T>C
ENST00000003084.11:c.3742T>C MANE Select	ENSP00000003084.6:p.Ser1248Pro
ENST00000647720.1:c.1192T>C
ENST00000649781.1:c.3559T>C	ENSP00000497203.1:p.Ser1187Pro
ENST00000003084.10:c.3742T>C	ENSP00000003084.6:p.Ser1248Pro
ENST00000426809.5:c.3652T>C	ENSP00000389119.1:p.Ser1218Pro
NM_000492.3:c.3742T>C , LRG_663t1:c.3742T>C	NP_000483.3:p.Ser1248Pro
XM_011515751.1:c.3832T>C	XP_011514053.1:p.Ser1278Pro
XM_011515752.1:c.3832T>C	XP_011514054.1:p.Ser1278Pro
XM_011515753.1:c.3499T>C	XP_011514055.1:p.Ser1167Pro
XM_011515754.1:c.3499T>C	XP_011514056.1:p.Ser1167Pro
NM_000492.4:c.3742T>C MANE Select	NP_000483.3:p.Ser1248Pro