Canonical Allele Identifier: CA457231192

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267626T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627572T>G , CM000669.2:g.117627572T>G	GRCh38
NC_000007.13:g.117267626T>G , CM000669.1:g.117267626T>G	GRCh37
NC_000007.12:g.117054862T>G	NCBI36
NG_016465.4:g.166789T>G , LRG_663:g.166789T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+2T>G	ENSP00000497673.2:n.3517+2T>G
ENST00000647978.2:c.*3233T>G	ENSP00000497658.1:n.*3233T>G
ENST00000649781.2:c.3336T>G	ENSP00000497203.1:p.Gly1112=
ENST00000685018.2:c.3519T>G	ENSP00000510194.2:p.Gly1173=
ENST00000687278.2:c.*172T>G	ENSP00000509593.2:n.*172T>G
ENST00000699585.1:c.3517+2T>G	ENSP00000514456.1:n.3517+2T>G
ENST00000699598.1:c.3519T>G	ENSP00000514467.1:p.Gly1173=
ENST00000699599.1:c.3519T>G	ENSP00000514468.1:p.Gly1173=
ENST00000699600.1:c.*180T>G	ENSP00000514469.1:n.*180T>G
ENST00000699601.1:c.*1894T>G	ENSP00000514470.1:n.*1894T>G
ENST00000699602.1:c.3513T>G	ENSP00000514471.1:p.Gly1171=
ENST00000699604.1:c.*3343T>G	ENSP00000514472.1:n.*3343T>G
ENST00000699605.1:c.3093T>G	ENSP00000514473.1:p.Gly1031=
ENST00000685018.1:c.267T>G	ENSP00000510194.1:p.Gly89=
ENST00000687278.1:c.1306T>G	ENSP00000509593.1:n.1306T>G
ENST00000689011.1:c.101T>G
ENST00000003084.11:c.3519T>G MANE Select	ENSP00000003084.6:p.Gly1173=
ENST00000647720.1:c.1167+2T>G
ENST00000648260.1:c.2301T>G	ENSP00000497957.1:p.Gly767=
ENST00000649406.1:c.3336T>G	ENSP00000497965.1:p.Gly1112=
ENST00000649781.1:c.3336T>G	ENSP00000497203.1:p.Gly1112=
ENST00000003084.10:c.3519T>G	ENSP00000003084.6:p.Gly1173=
ENST00000426809.5:c.3429T>G	ENSP00000389119.1:p.Gly1143=
ENST00000468795.1:c.344T>G
NM_000492.3:c.3519T>G , LRG_663t1:c.3519T>G	NP_000483.3:p.Gly1173=
XM_011515751.1:c.3609T>G	XP_011514053.1:p.Gly1203=
XM_011515752.1:c.3609T>G	XP_011514054.1:p.Gly1203=
XM_011515753.1:c.3276T>G	XP_011514055.1:p.Gly1092=
XM_011515754.1:c.3276T>G	XP_011514056.1:p.Gly1092=
NM_000492.4:c.3519T>G MANE Select	NP_000483.3:p.Gly1173=