Canonical Allele Identifier: CA327051

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53655
• ClinVar RCV Id: RCV000505907
• dbSNP Id: rs397508501
• MyVariant Identifiers: chr7:g.117250715A>G (hg19) ; chr7:g.117610661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610661A>G , CM000669.2:g.117610661A>G	GRCh38
NC_000007.13:g.117250715A>G , CM000669.1:g.117250715A>G	GRCh37
NC_000007.12:g.117037951A>G	NCBI36
NG_016465.4:g.149878A>G , LRG_663:g.149878A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3131A>G	ENSP00000497673.2:p.Glu1044Gly
ENST00000647978.2:c.*2845A>G	ENSP00000497658.1:n.*2845A>G
ENST00000649781.2:c.2948A>G	ENSP00000497203.1:p.Glu983Gly
ENST00000685018.2:c.3131A>G	ENSP00000510194.2:p.Glu1044Gly
ENST00000687278.2:c.3131A>G	ENSP00000509593.2:p.Glu1044Gly
ENST00000699585.1:c.3131A>G	ENSP00000514456.1:p.Glu1044Gly
ENST00000699598.1:c.3131A>G	ENSP00000514467.1:p.Glu1044Gly
ENST00000699599.1:c.3131A>G	ENSP00000514468.1:p.Glu1044Gly
ENST00000699600.1:c.3131A>G	ENSP00000514469.1:p.Glu1044Gly
ENST00000699601.1:c.*1431A>G	ENSP00000514470.1:n.*1431A>G
ENST00000699602.1:c.3131A>G	ENSP00000514471.1:p.Glu1044Gly
ENST00000699604.1:c.*2955A>G	ENSP00000514472.1:n.*2955A>G
ENST00000699605.1:c.2705A>G	ENSP00000514473.1:p.Glu902Gly
ENST00000687278.1:c.722A>G	ENSP00000509593.1:p.Glu241Gly
ENST00000003084.11:c.3131A>G MANE Select	ENSP00000003084.6:p.Glu1044Gly
ENST00000647720.1:c.781A>G
ENST00000648260.1:c.1913A>G	ENSP00000497957.1:p.Glu638Gly
ENST00000649406.1:c.2948A>G	ENSP00000497965.1:p.Glu983Gly
ENST00000649781.1:c.2948A>G	ENSP00000497203.1:p.Glu983Gly
ENST00000003084.10:c.3131A>G	ENSP00000003084.6:p.Glu1044Gly
ENST00000426809.5:c.3041A>G	ENSP00000389119.1:p.Glu1014Gly
NM_000492.3:c.3131A>G , LRG_663t1:c.3131A>G	NP_000483.3:p.Glu1044Gly
XM_011515751.1:c.3221A>G	XP_011514053.1:p.Glu1074Gly
XM_011515752.1:c.3221A>G	XP_011514054.1:p.Glu1074Gly
XM_011515753.1:c.2888A>G	XP_011514055.1:p.Glu963Gly
XM_011515754.1:c.2888A>G	XP_011514056.1:p.Glu963Gly
NM_000492.4:c.3131A>G MANE Select	NP_000483.3:p.Glu1044Gly