Canonical Allele Identifier: CA368993350

Gene: CFTR

Linked Data

• ClinVar Variation Id: 973505
• ClinVar RCV Id: RCV001250131
• dbSNP Id: rs1005269197
• MyVariant Identifiers: chr7:g.117254687G>C (hg19) ; chr7:g.117614633G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614633G>C , CM000669.2:g.117614633G>C	GRCh38
NC_000007.13:g.117254687G>C , CM000669.1:g.117254687G>C	GRCh37
NC_000007.12:g.117041923G>C	NCBI36
NG_016465.4:g.153850G>C , LRG_663:g.153850G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3388G>C	ENSP00000497673.2:p.Gly1130Arg
ENST00000647978.2:c.*3102G>C	ENSP00000497658.1:n.*3102G>C
ENST00000649781.2:c.3205G>C	ENSP00000497203.1:p.Gly1069Arg
ENST00000685018.2:c.3388G>C	ENSP00000510194.2:p.Gly1130Arg
ENST00000687278.2:c.3388G>C	ENSP00000509593.2:p.Gly1130Arg
ENST00000699585.1:c.3388G>C	ENSP00000514456.1:p.Gly1130Arg
ENST00000699598.1:c.3388G>C	ENSP00000514467.1:p.Gly1130Arg
ENST00000699599.1:c.3388G>C	ENSP00000514468.1:p.Gly1130Arg
ENST00000699600.1:c.3388G>C	ENSP00000514469.1:p.Gly1130Arg
ENST00000699601.1:c.*1763G>C	ENSP00000514470.1:n.*1763G>C
ENST00000699602.1:c.3382G>C	ENSP00000514471.1:p.Gly1128Arg
ENST00000699604.1:c.*3212G>C	ENSP00000514472.1:n.*3212G>C
ENST00000699605.1:c.2962G>C	ENSP00000514473.1:p.Gly988Arg
ENST00000685018.1:c.136G>C	ENSP00000510194.1:p.Gly46Arg
ENST00000687278.1:c.979G>C	ENSP00000509593.1:p.Gly327Arg
ENST00000003084.11:c.3388G>C MANE Select	ENSP00000003084.6:p.Gly1130Arg
ENST00000647720.1:c.1038G>C
ENST00000648260.1:c.2170G>C	ENSP00000497957.1:p.Gly724Arg
ENST00000649406.1:c.3205G>C	ENSP00000497965.1:p.Gly1069Arg
ENST00000649781.1:c.3205G>C	ENSP00000497203.1:p.Gly1069Arg
ENST00000003084.10:c.3388G>C	ENSP00000003084.6:p.Gly1130Arg
ENST00000426809.5:c.3298G>C	ENSP00000389119.1:p.Gly1100Arg
ENST00000468795.1:c.213G>C
NM_000492.3:c.3388G>C , LRG_663t1:c.3388G>C	NP_000483.3:p.Gly1130Arg
XM_011515751.1:c.3478G>C	XP_011514053.1:p.Gly1160Arg
XM_011515752.1:c.3478G>C	XP_011514054.1:p.Gly1160Arg
XM_011515753.1:c.3145G>C	XP_011514055.1:p.Gly1049Arg
XM_011515754.1:c.3145G>C	XP_011514056.1:p.Gly1049Arg
NM_000492.4:c.3388G>C MANE Select	NP_000483.3:p.Gly1130Arg