Canonical Allele Identifier: CA368974676

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282540G>C (hg19) ; chr7:g.117642486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642486G>C , CM000669.2:g.117642486G>C	GRCh38
NC_000007.13:g.117282540G>C , CM000669.1:g.117282540G>C	GRCh37
NC_000007.12:g.117069776G>C	NCBI36
NG_016465.4:g.181703G>C , LRG_663:g.181703G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3566G>C	ENSP00000497673.2:p.Ser1189Thr
ENST00000647978.2:c.*3480G>C	ENSP00000497658.1:n.*3480G>C
ENST00000649781.2:c.3583G>C	ENSP00000497203.1:p.Ala1195Pro
ENST00000685018.2:c.3766G>C	ENSP00000510194.2:p.Ala1256Pro
ENST00000687278.2:c.*419G>C	ENSP00000509593.2:n.*419G>C
ENST00000699585.1:c.3566G>C	ENSP00000514456.1:p.Ser1189Thr
ENST00000699598.1:c.3766G>C	ENSP00000514467.1:p.Ala1256Pro
ENST00000699599.1:c.3766G>C	ENSP00000514468.1:p.Ala1256Pro
ENST00000699600.1:c.*427G>C	ENSP00000514469.1:n.*427G>C
ENST00000699601.1:c.*2141G>C	ENSP00000514470.1:n.*2141G>C
ENST00000699602.1:c.3760G>C	ENSP00000514471.1:p.Ala1254Pro
ENST00000699604.1:c.*3590G>C	ENSP00000514472.1:n.*3590G>C
ENST00000699605.1:c.3340G>C	ENSP00000514473.1:p.Ala1114Pro
ENST00000685018.1:c.514G>C	ENSP00000510194.1:p.Ala172Pro
ENST00000687278.1:c.1553G>C	ENSP00000509593.1:n.1553G>C
ENST00000689011.1:c.348G>C
ENST00000003084.11:c.3766G>C MANE Select	ENSP00000003084.6:p.Ala1256Pro
ENST00000647720.1:c.1216G>C
ENST00000649781.1:c.3583G>C	ENSP00000497203.1:p.Ala1195Pro
ENST00000003084.10:c.3766G>C	ENSP00000003084.6:p.Ala1256Pro
ENST00000426809.5:c.3676G>C	ENSP00000389119.1:p.Ala1226Pro
NM_000492.3:c.3766G>C , LRG_663t1:c.3766G>C	NP_000483.3:p.Ala1256Pro
XM_011515751.1:c.3856G>C	XP_011514053.1:p.Ala1286Pro
XM_011515752.1:c.3856G>C	XP_011514054.1:p.Ala1286Pro
XM_011515753.1:c.3523G>C	XP_011514055.1:p.Ala1175Pro
XM_011515754.1:c.3523G>C	XP_011514056.1:p.Ala1175Pro
NM_000492.4:c.3766G>C MANE Select	NP_000483.3:p.Ala1256Pro