Canonical Allele Identifier: CA4451492

Gene: CFTR

Linked Data

• dbSNP Id: rs777765549
• ExAC: 7:117267637 A / C
• gnomAD v2: 7-117267637-A-C
• gnomAD v4: 7-117627583-A-C
• MyVariant Identifiers: chr7:g.117267637A>C (hg19) ; chr7:g.117627583A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627583A>C , CM000669.2:g.117627583A>C	GRCh38
NC_000007.13:g.117267637A>C , CM000669.1:g.117267637A>C	GRCh37
NC_000007.12:g.117054873A>C	NCBI36
NG_016465.4:g.166800A>C , LRG_663:g.166800A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+13A>C	ENSP00000497673.2:n.3517+13A>C
ENST00000647978.2:c.*3244A>C	ENSP00000497658.1:n.*3244A>C
ENST00000649781.2:c.3347A>C	ENSP00000497203.1:p.Lys1116Thr
ENST00000685018.2:c.3530A>C	ENSP00000510194.2:p.Lys1177Thr
ENST00000687278.2:c.*183A>C	ENSP00000509593.2:n.*183A>C
ENST00000699585.1:c.3517+13A>C	ENSP00000514456.1:n.3517+13A>C
ENST00000699598.1:c.3530A>C	ENSP00000514467.1:p.Lys1177Thr
ENST00000699599.1:c.3530A>C	ENSP00000514468.1:p.Lys1177Thr
ENST00000699600.1:c.*191A>C	ENSP00000514469.1:n.*191A>C
ENST00000699601.1:c.*1905A>C	ENSP00000514470.1:n.*1905A>C
ENST00000699602.1:c.3524A>C	ENSP00000514471.1:p.Lys1175Thr
ENST00000699604.1:c.*3354A>C	ENSP00000514472.1:n.*3354A>C
ENST00000699605.1:c.3104A>C	ENSP00000514473.1:p.Lys1035Thr
ENST00000685018.1:c.278A>C	ENSP00000510194.1:p.Lys93Thr
ENST00000687278.1:c.1317A>C	ENSP00000509593.1:n.1317A>C
ENST00000689011.1:c.112A>C
ENST00000003084.11:c.3530A>C MANE Select	ENSP00000003084.6:p.Lys1177Thr
ENST00000647720.1:c.1167+13A>C
ENST00000648260.1:c.2312A>C	ENSP00000497957.1:p.Lys771Thr
ENST00000649406.1:c.3347A>C	ENSP00000497965.1:p.Lys1116Thr
ENST00000649781.1:c.3347A>C	ENSP00000497203.1:p.Lys1116Thr
ENST00000003084.10:c.3530A>C	ENSP00000003084.6:p.Lys1177Thr
ENST00000426809.5:c.3440A>C	ENSP00000389119.1:p.Lys1147Thr
ENST00000468795.1:c.355A>C
NM_000492.3:c.3530A>C , LRG_663t1:c.3530A>C	NP_000483.3:p.Lys1177Thr
XM_011515751.1:c.3620A>C	XP_011514053.1:p.Lys1207Thr
XM_011515752.1:c.3620A>C	XP_011514054.1:p.Lys1207Thr
XM_011515753.1:c.3287A>C	XP_011514055.1:p.Lys1096Thr
XM_011515754.1:c.3287A>C	XP_011514056.1:p.Lys1096Thr
NM_000492.4:c.3530A>C MANE Select	NP_000483.3:p.Lys1177Thr