Canonical Allele Identifier: CA368984926

Gene: CFTR CFTR-AS1

Linked Data

• MyVariant Identifiers: chr7:g.117199687T>A (hg19) ; chr7:g.117559633T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559633T>A , CM000669.2:g.117559633T>A	GRCh38
NC_000007.13:g.117199687T>A , CM000669.1:g.117199687T>A	GRCh37
NC_000007.12:g.116986923T>A	NCBI36
NG_016465.4:g.98850T>A , LRG_663:g.98850T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1562T>A (CFTR)	ENSP00000497673.2:p.Ile521Asn
ENST00000647978.2:c.*1276T>A (CFTR)	ENSP00000497658.1:n.*1276T>A
ENST00000649781.2:c.1379T>A (CFTR)	ENSP00000497203.1:p.Ile460Asn
ENST00000685018.2:c.1562T>A (CFTR)	ENSP00000510194.2:p.Ile521Asn
ENST00000687278.2:c.1562T>A (CFTR)	ENSP00000509593.2:p.Ile521Asn
ENST00000699585.1:c.1562T>A (CFTR)	ENSP00000514456.1:p.Ile521Asn
ENST00000699596.1:c.1562T>A (CFTR)	ENSP00000514465.1:p.Ile521Asn
ENST00000699597.1:c.*120T>A (CFTR)	ENSP00000514466.1:n.*120T>A
ENST00000699598.1:c.1562T>A (CFTR)	ENSP00000514467.1:p.Ile521Asn
ENST00000699599.1:c.1562T>A (CFTR)	ENSP00000514468.1:p.Ile521Asn
ENST00000699600.1:c.1562T>A (CFTR)	ENSP00000514469.1:p.Ile521Asn
ENST00000699601.1:c.1562T>A (CFTR)	ENSP00000514470.1:p.Ile521Asn
ENST00000699602.1:c.1562T>A (CFTR)	ENSP00000514471.1:p.Ile521Asn
ENST00000699604.1:c.*1386T>A (CFTR)	ENSP00000514472.1:n.*1386T>A
ENST00000699605.1:c.1136T>A (CFTR)	ENSP00000514473.1:p.Ile379Asn
ENST00000003084.11:c.1562T>A (CFTR) MANE Select	ENSP00000003084.6:p.Ile521Asn
ENST00000647978.1:c.*1276T>A (CFTR)	ENSP00000497658.1:n.*1276T>A
ENST00000648260.1:c.1379T>A (CFTR)	ENSP00000497957.1:p.Ile460Asn
ENST00000649406.1:c.1379T>A (CFTR)	ENSP00000497965.1:p.Ile460Asn
ENST00000649781.1:c.1379T>A (CFTR)	ENSP00000497203.1:p.Ile460Asn
ENST00000003084.10:c.1562T>A (CFTR)	ENSP00000003084.6:p.Ile521Asn
ENST00000426809.5:c.1472T>A (CFTR)	ENSP00000389119.1:p.Ile491Asn
NM_000492.3:c.1562T>A , LRG_663t1:c.1562T>A (CFTR)	NP_000483.3:p.Ile521Asn
XM_011515751.1:c.1652T>A (CFTR)	XP_011514053.1:p.Ile551Asn
XM_011515752.1:c.1652T>A (CFTR)	XP_011514054.1:p.Ile551Asn
XM_011515753.1:c.1319T>A (CFTR)	XP_011514055.1:p.Ile440Asn
XM_011515754.1:c.1319T>A (CFTR)	XP_011514056.1:p.Ile440Asn
NR_149084.1:n.221+1100A>T (CFTR-AS1)
NM_000492.4:c.1562T>A (CFTR) MANE Select	NP_000483.3:p.Ile521Asn