Canonical Allele Identifier: CA164979021

Gene: CFTR

Linked Data

• dbSNP Id: rs1048668315
• gnomAD v2: 7-117272907-T-C
• gnomAD v3: 7-117632853-T-C
• gnomAD v4: 7-117632853-T-C
• MyVariant Identifiers: chr7:g.117272907T>C (hg19) ; chr7:g.117632853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117632853T>C , CM000669.2:g.117632853T>C	GRCh38
NC_000007.13:g.117272907T>C , CM000669.1:g.117272907T>C	GRCh37
NC_000007.12:g.117060143T>C	NCBI36
NG_016465.4:g.172070T>C , LRG_663:g.172070T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+5283T>C	ENSP00000497673.2:n.3517+5283T>C
ENST00000647978.2:c.*3431+5083T>C	ENSP00000497658.1:n.*3431+5083T>C
ENST00000649781.2:c.3534+5083T>C	ENSP00000497203.1:n.3534+5083T>C
ENST00000685018.2:c.3717+5083T>C	ENSP00000510194.2:n.3717+5083T>C
ENST00000687278.2:c.*370+5083T>C	ENSP00000509593.2:n.*370+5083T>C
ENST00000699585.1:c.3517+5283T>C	ENSP00000514456.1:n.3517+5283T>C
ENST00000699598.1:c.3717+5083T>C	ENSP00000514467.1:n.3717+5083T>C
ENST00000699599.1:c.3717+5083T>C	ENSP00000514468.1:n.3717+5083T>C
ENST00000699600.1:c.*378+5083T>C	ENSP00000514469.1:n.*378+5083T>C
ENST00000699601.1:c.*2092+5083T>C	ENSP00000514470.1:n.*2092+5083T>C
ENST00000699602.1:c.3711+5083T>C	ENSP00000514471.1:n.3711+5083T>C
ENST00000699604.1:c.*3541+5083T>C	ENSP00000514472.1:n.*3541+5083T>C
ENST00000699605.1:c.3291+5083T>C	ENSP00000514473.1:n.3291+5083T>C
ENST00000685018.1:c.465+5083T>C	ENSP00000510194.1:n.465+5083T>C
ENST00000687278.1:c.1504+5083T>C	ENSP00000509593.1:n.1504+5083T>C
ENST00000689011.1:c.299+5083T>C
ENST00000003084.11:c.3717+5083T>C MANE Select	ENSP00000003084.6:n.3717+5083T>C
ENST00000647720.1:c.1167+5283T>C
ENST00000649781.1:c.3534+5083T>C	ENSP00000497203.1:n.3534+5083T>C
ENST00000003084.10:c.3717+5083T>C	ENSP00000003084.6:n.3717+5083T>C
ENST00000426809.5:c.3627+5083T>C	ENSP00000389119.1:n.3627+5083T>C
NM_000492.3:c.3717+5083T>C , LRG_663t1:c.3717+5083T>C	NP_000483.3:n.3717+5083T>C
XM_011515751.1:c.3807+5083T>C	XP_011514053.1:n.3807+5083T>C
XM_011515752.1:c.3807+5083T>C	XP_011514054.1:n.3807+5083T>C
XM_011515753.1:c.3474+5083T>C	XP_011514055.1:n.3474+5083T>C
XM_011515754.1:c.3474+5083T>C	XP_011514056.1:n.3474+5083T>C
NM_000492.4:c.3717+5083T>C MANE Select	NP_000483.3:n.3717+5083T>C