Canonical Allele Identifier: CA368983460

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305543A>C (hg19) ; chr7:g.117665489A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665489A>C , CM000669.2:g.117665489A>C	GRCh38
NC_000007.13:g.117305543A>C , CM000669.1:g.117305543A>C	GRCh37
NC_000007.12:g.117092779A>C	NCBI36
NG_016465.4:g.204706A>C , LRG_663:g.204706A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*376A>C	ENSP00000497673.2:n.*376A>C
ENST00000647978.2:c.*3881A>C	ENSP00000497658.1:n.*3881A>C
ENST00000649781.2:c.3984A>C	ENSP00000497203.1:p.Lys1328Asn
ENST00000685018.2:c.*380A>C	ENSP00000510194.2:n.*380A>C
ENST00000687278.2:c.*820A>C	ENSP00000509593.2:n.*820A>C
ENST00000699585.1:c.*376A>C	ENSP00000514456.1:n.*376A>C
ENST00000699598.1:c.4167A>C	ENSP00000514467.1:p.Lys1389Asn
ENST00000699599.1:c.*380A>C	ENSP00000514468.1:n.*380A>C
ENST00000699600.1:c.*828A>C	ENSP00000514469.1:n.*828A>C
ENST00000699601.1:c.*2542A>C	ENSP00000514470.1:n.*2542A>C
ENST00000699602.1:c.4161A>C	ENSP00000514471.1:p.Lys1387Asn
ENST00000699604.1:c.*3991A>C	ENSP00000514472.1:n.*3991A>C
ENST00000699605.1:c.3741A>C	ENSP00000514473.1:p.Lys1247Asn
ENST00000699606.1:n.2335A>C
ENST00000685018.1:c.1031A>C	ENSP00000510194.1:n.1031A>C
ENST00000687278.1:c.1954A>C	ENSP00000509593.1:n.1954A>C
ENST00000689011.1:c.749A>C
ENST00000003084.11:c.4167A>C MANE Select	ENSP00000003084.6:p.Lys1389Asn
ENST00000647720.1:c.1617A>C
ENST00000649781.1:c.3984A>C	ENSP00000497203.1:p.Lys1328Asn
ENST00000003084.10:c.4167A>C	ENSP00000003084.6:p.Lys1389Asn
ENST00000426809.5:c.4077A>C	ENSP00000389119.1:p.Lys1359Asn
ENST00000600166.1:c.293A>C
NM_000492.3:c.4167A>C , LRG_663t1:c.4167A>C	NP_000483.3:p.Lys1389Asn
XM_011515751.1:c.4257A>C	XP_011514053.1:p.Lys1419Asn
XM_011515752.1:c.4257A>C	XP_011514054.1:p.Lys1419Asn
XM_011515753.1:c.3924A>C	XP_011514055.1:p.Lys1308Asn
XM_011515754.1:c.3924A>C	XP_011514056.1:p.Lys1308Asn
NM_000492.4:c.4167A>C MANE Select	NP_000483.3:p.Lys1389Asn