Canonical Allele Identifier: CA325708

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35878
• ClinVar RCV Id: RCV000029533
• dbSNP Id: rs193922522
• MyVariant Identifiers: chr7:g.117292915G>C (hg19) ; chr7:g.117652861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652861G>C , CM000669.2:g.117652861G>C	GRCh38
NC_000007.13:g.117292915G>C , CM000669.1:g.117292915G>C	GRCh37
NC_000007.12:g.117080151G>C	NCBI36
NG_016465.4:g.192078G>C , LRG_663:g.192078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*102G>C	ENSP00000497673.2:n.*102G>C
ENST00000647978.2:c.*3607G>C	ENSP00000497658.1:n.*3607G>C
ENST00000649781.2:c.3710G>C	ENSP00000497203.1:p.Gly1237Ala
ENST00000685018.2:c.*106G>C	ENSP00000510194.2:n.*106G>C
ENST00000687278.2:c.*546G>C	ENSP00000509593.2:n.*546G>C
ENST00000699585.1:c.*102G>C	ENSP00000514456.1:n.*102G>C
ENST00000699598.1:c.3893G>C	ENSP00000514467.1:p.Gly1298Ala
ENST00000699599.1:c.*106G>C	ENSP00000514468.1:n.*106G>C
ENST00000699600.1:c.*554G>C	ENSP00000514469.1:n.*554G>C
ENST00000699601.1:c.*2268G>C	ENSP00000514470.1:n.*2268G>C
ENST00000699602.1:c.3887G>C	ENSP00000514471.1:p.Gly1296Ala
ENST00000699604.1:c.*3717G>C	ENSP00000514472.1:n.*3717G>C
ENST00000699605.1:c.3467G>C	ENSP00000514473.1:p.Gly1156Ala
ENST00000699606.1:n.2061G>C
ENST00000685018.1:c.757G>C	ENSP00000510194.1:n.757G>C
ENST00000687278.1:c.1680G>C	ENSP00000509593.1:n.1680G>C
ENST00000689011.1:c.475G>C
ENST00000003084.11:c.3893G>C MANE Select	ENSP00000003084.6:p.Gly1298Ala
ENST00000647720.1:c.1343G>C
ENST00000649781.1:c.3710G>C	ENSP00000497203.1:p.Gly1237Ala
ENST00000003084.10:c.3893G>C	ENSP00000003084.6:p.Gly1298Ala
ENST00000426809.5:c.3803G>C	ENSP00000389119.1:p.Gly1268Ala
ENST00000600166.1:c.19G>C
NM_000492.3:c.3893G>C , LRG_663t1:c.3893G>C	NP_000483.3:p.Gly1298Ala
XM_011515751.1:c.3983G>C	XP_011514053.1:p.Gly1328Ala
XM_011515752.1:c.3983G>C	XP_011514054.1:p.Gly1328Ala
XM_011515753.1:c.3650G>C	XP_011514055.1:p.Gly1217Ala
XM_011515754.1:c.3650G>C	XP_011514056.1:p.Gly1217Ala
NM_000492.4:c.3893G>C MANE Select	NP_000483.3:p.Gly1298Ala