Canonical Allele Identifier: CA4451014

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 698266
• ClinVar RCV Id: RCV000865586 ; RCV001405872 ; RCV001593079
• dbSNP Id: rs1800092
• ExAC: 7:117199643 C / A
• gnomAD v2: 7-117199643-C-A
• gnomAD v3: 7-117559589-C-A
• gnomAD v4: 7-117559589-C-A
• MyVariant Identifiers: chr7:g.117199643C>A (hg19) ; chr7:g.117559589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559589C>A , CM000669.2:g.117559589C>A	GRCh38
NC_000007.13:g.117199643C>A , CM000669.1:g.117199643C>A	GRCh37
NC_000007.12:g.116986879C>A	NCBI36
NG_016465.4:g.98806C>A , LRG_663:g.98806C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1518C>A (CFTR)	ENSP00000497673.2:p.Ile506=
ENST00000647978.2:c.*1232C>A (CFTR)	ENSP00000497658.1:n.*1232C>A
ENST00000649781.2:c.1335C>A (CFTR)	ENSP00000497203.1:p.Ile445=
ENST00000685018.2:c.1518C>A (CFTR)	ENSP00000510194.2:p.Ile506=
ENST00000687278.2:c.1518C>A (CFTR)	ENSP00000509593.2:p.Ile506=
ENST00000699585.1:c.1518C>A (CFTR)	ENSP00000514456.1:p.Ile506=
ENST00000699596.1:c.1518C>A (CFTR)	ENSP00000514465.1:p.Ile506=
ENST00000699597.1:c.*76C>A (CFTR)	ENSP00000514466.1:n.*76C>A
ENST00000699598.1:c.1518C>A (CFTR)	ENSP00000514467.1:p.Ile506=
ENST00000699599.1:c.1518C>A (CFTR)	ENSP00000514468.1:p.Ile506=
ENST00000699600.1:c.1518C>A (CFTR)	ENSP00000514469.1:p.Ile506=
ENST00000699601.1:c.1518C>A (CFTR)	ENSP00000514470.1:p.Ile506=
ENST00000699602.1:c.1518C>A (CFTR)	ENSP00000514471.1:p.Ile506=
ENST00000699604.1:c.*1342C>A (CFTR)	ENSP00000514472.1:n.*1342C>A
ENST00000699605.1:c.1092C>A (CFTR)	ENSP00000514473.1:p.Ile364=
ENST00000003084.11:c.1518C>A (CFTR) MANE Select	ENSP00000003084.6:p.Ile506=
ENST00000647978.1:c.*1232C>A (CFTR)	ENSP00000497658.1:n.*1232C>A
ENST00000648260.1:c.1335C>A (CFTR)	ENSP00000497957.1:p.Ile445=
ENST00000649406.1:c.1335C>A (CFTR)	ENSP00000497965.1:p.Ile445=
ENST00000649781.1:c.1335C>A (CFTR)	ENSP00000497203.1:p.Ile445=
ENST00000003084.10:c.1518C>A (CFTR)	ENSP00000003084.6:p.Ile506=
ENST00000426809.5:c.1428C>A (CFTR)	ENSP00000389119.1:p.Ile476=
NM_000492.3:c.1518C>A , LRG_663t1:c.1518C>A (CFTR)	NP_000483.3:p.Ile506=
XM_011515751.1:c.1608C>A (CFTR)	XP_011514053.1:p.Ile536=
XM_011515752.1:c.1608C>A (CFTR)	XP_011514054.1:p.Ile536=
XM_011515753.1:c.1275C>A (CFTR)	XP_011514055.1:p.Ile425=
XM_011515754.1:c.1275C>A (CFTR)	XP_011514056.1:p.Ile425=
NR_149084.1:n.221+1144G>T (CFTR-AS1)
NM_000492.4:c.1518C>A (CFTR) MANE Select	NP_000483.3:p.Ile506=