Canonical Allele Identifier: CA4451006

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 358731
• ClinVar RCV Id: RCV000361103 ; RCV000592449 ; RCV001001194 ; RCV001095217
• dbSNP Id: rs143980575
• ExAC: 7:117199579 G / C
• gnomAD v2: 7-117199579-G-C
• gnomAD v3: 7-117559525-G-C
• gnomAD v4: 7-117559525-G-C
• MyVariant Identifiers: chr7:g.117199579G>C (hg19) ; chr7:g.117559525G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559525G>C , CM000669.2:g.117559525G>C	GRCh38
NC_000007.13:g.117199579G>C , CM000669.1:g.117199579G>C	GRCh37
NC_000007.12:g.116986815G>C	NCBI36
NG_016465.4:g.98742G>C , LRG_663:g.98742G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1454G>C (CFTR)	ENSP00000497673.2:p.Ser485Thr
ENST00000647978.2:c.*1168G>C (CFTR)	ENSP00000497658.1:n.*1168G>C
ENST00000649781.2:c.1271G>C (CFTR)	ENSP00000497203.1:p.Ser424Thr
ENST00000685018.2:c.1454G>C (CFTR)	ENSP00000510194.2:p.Ser485Thr
ENST00000687278.2:c.1454G>C (CFTR)	ENSP00000509593.2:p.Ser485Thr
ENST00000699585.1:c.1454G>C (CFTR)	ENSP00000514456.1:p.Ser485Thr
ENST00000699596.1:c.1454G>C (CFTR)	ENSP00000514465.1:p.Ser485Thr
ENST00000699597.1:c.*12G>C (CFTR)	ENSP00000514466.1:n.*12G>C
ENST00000699598.1:c.1454G>C (CFTR)	ENSP00000514467.1:p.Ser485Thr
ENST00000699599.1:c.1454G>C (CFTR)	ENSP00000514468.1:p.Ser485Thr
ENST00000699600.1:c.1454G>C (CFTR)	ENSP00000514469.1:p.Ser485Thr
ENST00000699601.1:c.1454G>C (CFTR)	ENSP00000514470.1:p.Ser485Thr
ENST00000699602.1:c.1454G>C (CFTR)	ENSP00000514471.1:p.Ser485Thr
ENST00000699604.1:c.*1278G>C (CFTR)	ENSP00000514472.1:n.*1278G>C
ENST00000699605.1:c.1028G>C (CFTR)	ENSP00000514473.1:p.Ser343Thr
ENST00000003084.11:c.1454G>C (CFTR) MANE Select	ENSP00000003084.6:p.Ser485Thr
ENST00000647978.1:c.*1168G>C (CFTR)	ENSP00000497658.1:n.*1168G>C
ENST00000648260.1:c.1271G>C (CFTR)	ENSP00000497957.1:p.Ser424Thr
ENST00000649406.1:c.1271G>C (CFTR)	ENSP00000497965.1:p.Ser424Thr
ENST00000649781.1:c.1271G>C (CFTR)	ENSP00000497203.1:p.Ser424Thr
ENST00000003084.10:c.1454G>C (CFTR)	ENSP00000003084.6:p.Ser485Thr
ENST00000426809.5:c.1364G>C (CFTR)	ENSP00000389119.1:p.Ser455Thr
NM_000492.3:c.1454G>C , LRG_663t1:c.1454G>C (CFTR)	NP_000483.3:p.Ser485Thr
XM_011515751.1:c.1544G>C (CFTR)	XP_011514053.1:p.Ser515Thr
XM_011515752.1:c.1544G>C (CFTR)	XP_011514054.1:p.Ser515Thr
XM_011515753.1:c.1211G>C (CFTR)	XP_011514055.1:p.Ser404Thr
XM_011515754.1:c.1211G>C (CFTR)	XP_011514056.1:p.Ser404Thr
NR_149084.1:n.221+1208C>G (CFTR-AS1)
NM_000492.4:c.1454G>C (CFTR) MANE Select	NP_000483.3:p.Ser485Thr