Canonical Allele Identifier: CA457231219

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1081060
• ClinVar RCV Id: RCV001396901
• dbSNP Id: rs2116129370
• MyVariant Identifiers: chr7:g.117267662C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627608C>T , CM000669.2:g.117627608C>T	GRCh38
NC_000007.13:g.117267662C>T , CM000669.1:g.117267662C>T	GRCh37
NC_000007.12:g.117054898C>T	NCBI36
NG_016465.4:g.166825C>T , LRG_663:g.166825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+38C>T	ENSP00000497673.2:n.3517+38C>T
ENST00000647978.2:c.*3269C>T	ENSP00000497658.1:n.*3269C>T
ENST00000649781.2:c.3372C>T	ENSP00000497203.1:p.Gly1124=
ENST00000685018.2:c.3555C>T	ENSP00000510194.2:p.Gly1185=
ENST00000687278.2:c.*208C>T	ENSP00000509593.2:n.*208C>T
ENST00000699585.1:c.3517+38C>T	ENSP00000514456.1:n.3517+38C>T
ENST00000699598.1:c.3555C>T	ENSP00000514467.1:p.Gly1185=
ENST00000699599.1:c.3555C>T	ENSP00000514468.1:p.Gly1185=
ENST00000699600.1:c.*216C>T	ENSP00000514469.1:n.*216C>T
ENST00000699601.1:c.*1930C>T	ENSP00000514470.1:n.*1930C>T
ENST00000699602.1:c.3549C>T	ENSP00000514471.1:p.Gly1183=
ENST00000699604.1:c.*3379C>T	ENSP00000514472.1:n.*3379C>T
ENST00000699605.1:c.3129C>T	ENSP00000514473.1:p.Gly1043=
ENST00000685018.1:c.303C>T	ENSP00000510194.1:p.Gly101=
ENST00000687278.1:c.1342C>T	ENSP00000509593.1:n.1342C>T
ENST00000689011.1:c.137C>T
ENST00000003084.11:c.3555C>T MANE Select	ENSP00000003084.6:p.Gly1185=
ENST00000647720.1:c.1167+38C>T
ENST00000648260.1:c.2337C>T	ENSP00000497957.1:p.Gly779=
ENST00000649406.1:c.3372C>T	ENSP00000497965.1:p.Gly1124=
ENST00000649781.1:c.3372C>T	ENSP00000497203.1:p.Gly1124=
ENST00000003084.10:c.3555C>T	ENSP00000003084.6:p.Gly1185=
ENST00000426809.5:c.3465C>T	ENSP00000389119.1:p.Gly1155=
ENST00000468795.1:c.380C>T
NM_000492.3:c.3555C>T , LRG_663t1:c.3555C>T	NP_000483.3:p.Gly1185=
XM_011515751.1:c.3645C>T	XP_011514053.1:p.Gly1215=
XM_011515752.1:c.3645C>T	XP_011514054.1:p.Gly1215=
XM_011515753.1:c.3312C>T	XP_011514055.1:p.Gly1104=
XM_011515754.1:c.3312C>T	XP_011514056.1:p.Gly1104=
NM_000492.4:c.3555C>T MANE Select	NP_000483.3:p.Gly1185=