Canonical Allele Identifier: CA368989235

Gene: CFTR

Linked Data

• gnomAD v4: 7-117606749-T-C
• MyVariant Identifiers: chr7:g.117246803T>C (hg19) ; chr7:g.117606749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606749T>C , CM000669.2:g.117606749T>C	GRCh38
NC_000007.13:g.117246803T>C , CM000669.1:g.117246803T>C	GRCh37
NC_000007.12:g.117034039T>C	NCBI36
NG_016465.4:g.145966T>C , LRG_663:g.145966T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2984T>C	ENSP00000497673.2:p.Ile995Thr
ENST00000647978.2:c.*2698T>C	ENSP00000497658.1:n.*2698T>C
ENST00000649781.2:c.2801T>C	ENSP00000497203.1:p.Ile934Thr
ENST00000685018.2:c.2984T>C	ENSP00000510194.2:p.Ile995Thr
ENST00000687278.2:c.2984T>C	ENSP00000509593.2:p.Ile995Thr
ENST00000699585.1:c.2984T>C	ENSP00000514456.1:p.Ile995Thr
ENST00000699598.1:c.2984T>C	ENSP00000514467.1:p.Ile995Thr
ENST00000699599.1:c.2984T>C	ENSP00000514468.1:p.Ile995Thr
ENST00000699600.1:c.2984T>C	ENSP00000514469.1:p.Ile995Thr
ENST00000699601.1:c.*1284T>C	ENSP00000514470.1:n.*1284T>C
ENST00000699602.1:c.2984T>C	ENSP00000514471.1:p.Ile995Thr
ENST00000699604.1:c.*2808T>C	ENSP00000514472.1:n.*2808T>C
ENST00000699605.1:c.2558T>C	ENSP00000514473.1:p.Ile853Thr
ENST00000687278.1:c.575T>C	ENSP00000509593.1:p.Ile192Thr
ENST00000003084.11:c.2984T>C MANE Select	ENSP00000003084.6:p.Ile995Thr
ENST00000647720.1:c.634T>C
ENST00000648260.1:c.1766T>C	ENSP00000497957.1:p.Ile589Thr
ENST00000649406.1:c.2801T>C	ENSP00000497965.1:p.Ile934Thr
ENST00000649781.1:c.2801T>C	ENSP00000497203.1:p.Ile934Thr
ENST00000003084.10:c.2984T>C	ENSP00000003084.6:p.Ile995Thr
ENST00000426809.5:c.2894T>C	ENSP00000389119.1:p.Ile965Thr
NM_000492.3:c.2984T>C , LRG_663t1:c.2984T>C	NP_000483.3:p.Ile995Thr
XM_011515751.1:c.3074T>C	XP_011514053.1:p.Ile1025Thr
XM_011515752.1:c.3074T>C	XP_011514054.1:p.Ile1025Thr
XM_011515753.1:c.2741T>C	XP_011514055.1:p.Ile914Thr
XM_011515754.1:c.2741T>C	XP_011514056.1:p.Ile914Thr
NM_000492.4:c.2984T>C MANE Select	NP_000483.3:p.Ile995Thr