Canonical Allele Identifier: CA457230300

Gene: CFTR

Linked Data

• gnomAD v4: 7-117664753-C-T
• MyVariant Identifiers: chr7:g.117304807C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664753C>T , CM000669.2:g.117664753C>T	GRCh38
NC_000007.13:g.117304807C>T , CM000669.1:g.117304807C>T	GRCh37
NC_000007.12:g.117092043C>T	NCBI36
NG_016465.4:g.203970C>T , LRG_663:g.203970C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*238C>T	ENSP00000497673.2:n.*238C>T
ENST00000647978.2:c.*3743C>T	ENSP00000497658.1:n.*3743C>T
ENST00000649781.2:c.3846C>T	ENSP00000497203.1:p.Gly1282=
ENST00000685018.2:c.*242C>T	ENSP00000510194.2:n.*242C>T
ENST00000687278.2:c.*682C>T	ENSP00000509593.2:n.*682C>T
ENST00000699585.1:c.*238C>T	ENSP00000514456.1:n.*238C>T
ENST00000699598.1:c.4029C>T	ENSP00000514467.1:p.Gly1343=
ENST00000699599.1:c.*242C>T	ENSP00000514468.1:n.*242C>T
ENST00000699600.1:c.*690C>T	ENSP00000514469.1:n.*690C>T
ENST00000699601.1:c.*2404C>T	ENSP00000514470.1:n.*2404C>T
ENST00000699602.1:c.4023C>T	ENSP00000514471.1:p.Gly1341=
ENST00000699604.1:c.*3853C>T	ENSP00000514472.1:n.*3853C>T
ENST00000699605.1:c.3603C>T	ENSP00000514473.1:p.Gly1201=
ENST00000699606.1:n.2197C>T
ENST00000685018.1:c.893C>T	ENSP00000510194.1:n.893C>T
ENST00000687278.1:c.1816C>T	ENSP00000509593.1:n.1816C>T
ENST00000689011.1:c.611C>T
ENST00000003084.11:c.4029C>T MANE Select	ENSP00000003084.6:p.Gly1343=
ENST00000647720.1:c.1479C>T
ENST00000649781.1:c.3846C>T	ENSP00000497203.1:p.Gly1282=
ENST00000003084.10:c.4029C>T	ENSP00000003084.6:p.Gly1343=
ENST00000426809.5:c.3939C>T	ENSP00000389119.1:p.Gly1313=
ENST00000600166.1:c.155C>T
NM_000492.3:c.4029C>T , LRG_663t1:c.4029C>T	NP_000483.3:p.Gly1343=
XM_011515751.1:c.4119C>T	XP_011514053.1:p.Gly1373=
XM_011515752.1:c.4119C>T	XP_011514054.1:p.Gly1373=
XM_011515753.1:c.3786C>T	XP_011514055.1:p.Gly1262=
XM_011515754.1:c.3786C>T	XP_011514056.1:p.Gly1262=
NM_000492.4:c.4029C>T MANE Select	NP_000483.3:p.Gly1343=