Canonical Allele Identifier: CA368978453

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292951G>C (hg19) ; chr7:g.117652897G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652897G>C , CM000669.2:g.117652897G>C	GRCh38
NC_000007.13:g.117292951G>C , CM000669.1:g.117292951G>C	GRCh37
NC_000007.12:g.117080187G>C	NCBI36
NG_016465.4:g.192114G>C , LRG_663:g.192114G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*138G>C	ENSP00000497673.2:n.*138G>C
ENST00000647978.2:c.*3643G>C	ENSP00000497658.1:n.*3643G>C
ENST00000649781.2:c.3746G>C	ENSP00000497203.1:p.Trp1249Ser
ENST00000685018.2:c.*142G>C	ENSP00000510194.2:n.*142G>C
ENST00000687278.2:c.*582G>C	ENSP00000509593.2:n.*582G>C
ENST00000699585.1:c.*138G>C	ENSP00000514456.1:n.*138G>C
ENST00000699598.1:c.3929G>C	ENSP00000514467.1:p.Trp1310Ser
ENST00000699599.1:c.*142G>C	ENSP00000514468.1:n.*142G>C
ENST00000699600.1:c.*590G>C	ENSP00000514469.1:n.*590G>C
ENST00000699601.1:c.*2304G>C	ENSP00000514470.1:n.*2304G>C
ENST00000699602.1:c.3923G>C	ENSP00000514471.1:p.Trp1308Ser
ENST00000699604.1:c.*3753G>C	ENSP00000514472.1:n.*3753G>C
ENST00000699605.1:c.3503G>C	ENSP00000514473.1:p.Trp1168Ser
ENST00000699606.1:n.2097G>C
ENST00000685018.1:c.793G>C	ENSP00000510194.1:n.793G>C
ENST00000687278.1:c.1716G>C	ENSP00000509593.1:n.1716G>C
ENST00000689011.1:c.511G>C
ENST00000003084.11:c.3929G>C MANE Select	ENSP00000003084.6:p.Trp1310Ser
ENST00000647720.1:c.1379G>C
ENST00000649781.1:c.3746G>C	ENSP00000497203.1:p.Trp1249Ser
ENST00000003084.10:c.3929G>C	ENSP00000003084.6:p.Trp1310Ser
ENST00000426809.5:c.3839G>C	ENSP00000389119.1:p.Trp1280Ser
ENST00000600166.1:c.55G>C
NM_000492.3:c.3929G>C , LRG_663t1:c.3929G>C	NP_000483.3:p.Trp1310Ser
XM_011515751.1:c.4019G>C	XP_011514053.1:p.Trp1340Ser
XM_011515752.1:c.4019G>C	XP_011514054.1:p.Trp1340Ser
XM_011515753.1:c.3686G>C	XP_011514055.1:p.Trp1229Ser
XM_011515754.1:c.3686G>C	XP_011514056.1:p.Trp1229Ser
NM_000492.4:c.3929G>C MANE Select	NP_000483.3:p.Trp1310Ser