Canonical Allele Identifier: CA368990846

Gene: CFTR

Linked Data

• dbSNP Id: rs1455444601
• gnomAD v2: 7-117250714-G-C
• gnomAD v4: 7-117610660-G-C
• MyVariant Identifiers: chr7:g.117250714G>C (hg19) ; chr7:g.117610660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610660G>C , CM000669.2:g.117610660G>C	GRCh38
NC_000007.13:g.117250714G>C , CM000669.1:g.117250714G>C	GRCh37
NC_000007.12:g.117037950G>C	NCBI36
NG_016465.4:g.149877G>C , LRG_663:g.149877G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3130G>C	ENSP00000497673.2:p.Glu1044Gln
ENST00000647978.2:c.*2844G>C	ENSP00000497658.1:n.*2844G>C
ENST00000649781.2:c.2947G>C	ENSP00000497203.1:p.Glu983Gln
ENST00000685018.2:c.3130G>C	ENSP00000510194.2:p.Glu1044Gln
ENST00000687278.2:c.3130G>C	ENSP00000509593.2:p.Glu1044Gln
ENST00000699585.1:c.3130G>C	ENSP00000514456.1:p.Glu1044Gln
ENST00000699598.1:c.3130G>C	ENSP00000514467.1:p.Glu1044Gln
ENST00000699599.1:c.3130G>C	ENSP00000514468.1:p.Glu1044Gln
ENST00000699600.1:c.3130G>C	ENSP00000514469.1:p.Glu1044Gln
ENST00000699601.1:c.*1430G>C	ENSP00000514470.1:n.*1430G>C
ENST00000699602.1:c.3130G>C	ENSP00000514471.1:p.Glu1044Gln
ENST00000699604.1:c.*2954G>C	ENSP00000514472.1:n.*2954G>C
ENST00000699605.1:c.2704G>C	ENSP00000514473.1:p.Glu902Gln
ENST00000687278.1:c.721G>C	ENSP00000509593.1:p.Glu241Gln
ENST00000003084.11:c.3130G>C MANE Select	ENSP00000003084.6:p.Glu1044Gln
ENST00000647720.1:c.780G>C
ENST00000648260.1:c.1912G>C	ENSP00000497957.1:p.Glu638Gln
ENST00000649406.1:c.2947G>C	ENSP00000497965.1:p.Glu983Gln
ENST00000649781.1:c.2947G>C	ENSP00000497203.1:p.Glu983Gln
ENST00000003084.10:c.3130G>C	ENSP00000003084.6:p.Glu1044Gln
ENST00000426809.5:c.3040G>C	ENSP00000389119.1:p.Glu1014Gln
NM_000492.3:c.3130G>C , LRG_663t1:c.3130G>C	NP_000483.3:p.Glu1044Gln
XM_011515751.1:c.3220G>C	XP_011514053.1:p.Glu1074Gln
XM_011515752.1:c.3220G>C	XP_011514054.1:p.Glu1074Gln
XM_011515753.1:c.2887G>C	XP_011514055.1:p.Glu963Gln
XM_011515754.1:c.2887G>C	XP_011514056.1:p.Glu963Gln
NM_000492.4:c.3130G>C MANE Select	NP_000483.3:p.Glu1044Gln