Canonical Allele Identifier: CA368975114

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1735164
• ClinVar RCV Id: RCV002355253 ; RCV003146542
• dbSNP Id: rs1584837127
• MyVariant Identifiers: chr7:g.117282585G>A (hg19) ; chr7:g.117642531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642531G>A , CM000669.2:g.117642531G>A	GRCh38
NC_000007.13:g.117282585G>A , CM000669.1:g.117282585G>A	GRCh37
NC_000007.12:g.117069821G>A	NCBI36
NG_016465.4:g.181748G>A , LRG_663:g.181748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*20G>A	ENSP00000497673.2:n.*20G>A
ENST00000647978.2:c.*3525G>A	ENSP00000497658.1:n.*3525G>A
ENST00000649781.2:c.3628G>A	ENSP00000497203.1:p.Gly1210Ser
ENST00000685018.2:c.3811G>A	ENSP00000510194.2:p.Gly1271Ser
ENST00000687278.2:c.*464G>A	ENSP00000509593.2:n.*464G>A
ENST00000699585.1:c.*20G>A	ENSP00000514456.1:n.*20G>A
ENST00000699598.1:c.3811G>A	ENSP00000514467.1:p.Gly1271Ser
ENST00000699599.1:c.3811G>A	ENSP00000514468.1:p.Gly1271Ser
ENST00000699600.1:c.*472G>A	ENSP00000514469.1:n.*472G>A
ENST00000699601.1:c.*2186G>A	ENSP00000514470.1:n.*2186G>A
ENST00000699602.1:c.3805G>A	ENSP00000514471.1:p.Gly1269Ser
ENST00000699604.1:c.*3635G>A	ENSP00000514472.1:n.*3635G>A
ENST00000699605.1:c.3385G>A	ENSP00000514473.1:p.Gly1129Ser
ENST00000685018.1:c.559G>A	ENSP00000510194.1:p.Gly187Ser
ENST00000687278.1:c.1598G>A	ENSP00000509593.1:n.1598G>A
ENST00000689011.1:c.393G>A
ENST00000003084.11:c.3811G>A MANE Select	ENSP00000003084.6:p.Gly1271Ser
ENST00000647720.1:c.1261G>A
ENST00000649781.1:c.3628G>A	ENSP00000497203.1:p.Gly1210Ser
ENST00000003084.10:c.3811G>A	ENSP00000003084.6:p.Gly1271Ser
ENST00000426809.5:c.3721G>A	ENSP00000389119.1:p.Gly1241Ser
NM_000492.3:c.3811G>A , LRG_663t1:c.3811G>A	NP_000483.3:p.Gly1271Ser
XM_011515751.1:c.3901G>A	XP_011514053.1:p.Gly1301Ser
XM_011515752.1:c.3901G>A	XP_011514054.1:p.Gly1301Ser
XM_011515753.1:c.3568G>A	XP_011514055.1:p.Gly1190Ser
XM_011515754.1:c.3568G>A	XP_011514056.1:p.Gly1190Ser
NM_000492.4:c.3811G>A MANE Select	NP_000483.3:p.Gly1271Ser