Canonical Allele Identifier: CA457228061

Gene: CFTR

Linked Data

• gnomAD v4: 7-117642452-A-C
• MyVariant Identifiers: chr7:g.117282506A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642452A>C , CM000669.2:g.117642452A>C	GRCh38
NC_000007.13:g.117282506A>C , CM000669.1:g.117282506A>C	GRCh37
NC_000007.12:g.117069742A>C	NCBI36
NG_016465.4:g.181669A>C , LRG_663:g.181669A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3532A>C	ENSP00000497673.2:p.Lys1178Gln
ENST00000647978.2:c.*3446A>C	ENSP00000497658.1:n.*3446A>C
ENST00000649781.2:c.3549A>C	ENSP00000497203.1:p.Gly1183=
ENST00000685018.2:c.3732A>C	ENSP00000510194.2:p.Gly1244=
ENST00000687278.2:c.*385A>C	ENSP00000509593.2:n.*385A>C
ENST00000699585.1:c.3532A>C	ENSP00000514456.1:p.Lys1178Gln
ENST00000699598.1:c.3732A>C	ENSP00000514467.1:p.Gly1244=
ENST00000699599.1:c.3732A>C	ENSP00000514468.1:p.Gly1244=
ENST00000699600.1:c.*393A>C	ENSP00000514469.1:n.*393A>C
ENST00000699601.1:c.*2107A>C	ENSP00000514470.1:n.*2107A>C
ENST00000699602.1:c.3726A>C	ENSP00000514471.1:p.Gly1242=
ENST00000699604.1:c.*3556A>C	ENSP00000514472.1:n.*3556A>C
ENST00000699605.1:c.3306A>C	ENSP00000514473.1:p.Gly1102=
ENST00000685018.1:c.480A>C	ENSP00000510194.1:p.Gly160=
ENST00000687278.1:c.1519A>C	ENSP00000509593.1:n.1519A>C
ENST00000689011.1:c.314A>C
ENST00000003084.11:c.3732A>C MANE Select	ENSP00000003084.6:p.Gly1244=
ENST00000647720.1:c.1182A>C
ENST00000649781.1:c.3549A>C	ENSP00000497203.1:p.Gly1183=
ENST00000003084.10:c.3732A>C	ENSP00000003084.6:p.Gly1244=
ENST00000426809.5:c.3642A>C	ENSP00000389119.1:p.Gly1214=
NM_000492.3:c.3732A>C , LRG_663t1:c.3732A>C	NP_000483.3:p.Gly1244=
XM_011515751.1:c.3822A>C	XP_011514053.1:p.Gly1274=
XM_011515752.1:c.3822A>C	XP_011514054.1:p.Gly1274=
XM_011515753.1:c.3489A>C	XP_011514055.1:p.Gly1163=
XM_011515754.1:c.3489A>C	XP_011514056.1:p.Gly1163=
NM_000492.4:c.3732A>C MANE Select	NP_000483.3:p.Gly1244=