Canonical Allele Identifier: CA368997031

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267687G>C (hg19) ; chr7:g.117627633G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627633G>C , CM000669.2:g.117627633G>C	GRCh38
NC_000007.13:g.117267687G>C , CM000669.1:g.117267687G>C	GRCh37
NC_000007.12:g.117054923G>C	NCBI36
NG_016465.4:g.166850G>C , LRG_663:g.166850G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+63G>C	ENSP00000497673.2:n.3517+63G>C
ENST00000647978.2:c.*3294G>C	ENSP00000497658.1:n.*3294G>C
ENST00000649781.2:c.3397G>C	ENSP00000497203.1:p.Glu1133Gln
ENST00000685018.2:c.3580G>C	ENSP00000510194.2:p.Glu1194Gln
ENST00000687278.2:c.*233G>C	ENSP00000509593.2:n.*233G>C
ENST00000699585.1:c.3517+63G>C	ENSP00000514456.1:n.3517+63G>C
ENST00000699598.1:c.3580G>C	ENSP00000514467.1:p.Glu1194Gln
ENST00000699599.1:c.3580G>C	ENSP00000514468.1:p.Glu1194Gln
ENST00000699600.1:c.*241G>C	ENSP00000514469.1:n.*241G>C
ENST00000699601.1:c.*1955G>C	ENSP00000514470.1:n.*1955G>C
ENST00000699602.1:c.3574G>C	ENSP00000514471.1:p.Glu1192Gln
ENST00000699604.1:c.*3404G>C	ENSP00000514472.1:n.*3404G>C
ENST00000699605.1:c.3154G>C	ENSP00000514473.1:p.Glu1052Gln
ENST00000685018.1:c.328G>C	ENSP00000510194.1:p.Glu110Gln
ENST00000687278.1:c.1367G>C	ENSP00000509593.1:n.1367G>C
ENST00000689011.1:c.162G>C
ENST00000003084.11:c.3580G>C MANE Select	ENSP00000003084.6:p.Glu1194Gln
ENST00000647720.1:c.1167+63G>C
ENST00000648260.1:c.2362G>C	ENSP00000497957.1:p.Glu788Gln
ENST00000649406.1:c.3397G>C	ENSP00000497965.1:p.Glu1133Gln
ENST00000649781.1:c.3397G>C	ENSP00000497203.1:p.Glu1133Gln
ENST00000003084.10:c.3580G>C	ENSP00000003084.6:p.Glu1194Gln
ENST00000426809.5:c.3490G>C	ENSP00000389119.1:p.Glu1164Gln
ENST00000468795.1:c.405G>C
NM_000492.3:c.3580G>C , LRG_663t1:c.3580G>C	NP_000483.3:p.Glu1194Gln
XM_011515751.1:c.3670G>C	XP_011514053.1:p.Glu1224Gln
XM_011515752.1:c.3670G>C	XP_011514054.1:p.Glu1224Gln
XM_011515753.1:c.3337G>C	XP_011514055.1:p.Glu1113Gln
XM_011515754.1:c.3337G>C	XP_011514056.1:p.Glu1113Gln
NM_000492.4:c.3580G>C MANE Select	NP_000483.3:p.Glu1194Gln