Canonical Allele Identifier: CA326527

Gene: CFTR CFTR-AS1

Linked Data

• dbSNP Id: rs74571530
• MyVariant Identifiers: chr7:g.117199648T>C (hg19) ; chr7:g.117559594T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559594T>C , CM000669.2:g.117559594T>C	GRCh38
NC_000007.13:g.117199648T>C , CM000669.1:g.117199648T>C	GRCh37
NC_000007.12:g.116986884T>C	NCBI36
NG_016465.4:g.98811T>C , LRG_663:g.98811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1523T>C (CFTR)	ENSP00000497673.2:p.Phe508Ser
ENST00000647978.2:c.*1237T>C (CFTR)	ENSP00000497658.1:n.*1237T>C
ENST00000649781.2:c.1340T>C (CFTR)	ENSP00000497203.1:p.Phe447Ser
ENST00000685018.2:c.1523T>C (CFTR)	ENSP00000510194.2:p.Phe508Ser
ENST00000687278.2:c.1523T>C (CFTR)	ENSP00000509593.2:p.Phe508Ser
ENST00000699585.1:c.1523T>C (CFTR)	ENSP00000514456.1:p.Phe508Ser
ENST00000699596.1:c.1523T>C (CFTR)	ENSP00000514465.1:p.Phe508Ser
ENST00000699597.1:c.*81T>C (CFTR)	ENSP00000514466.1:n.*81T>C
ENST00000699598.1:c.1523T>C (CFTR)	ENSP00000514467.1:p.Phe508Ser
ENST00000699599.1:c.1523T>C (CFTR)	ENSP00000514468.1:p.Phe508Ser
ENST00000699600.1:c.1523T>C (CFTR)	ENSP00000514469.1:p.Phe508Ser
ENST00000699601.1:c.1523T>C (CFTR)	ENSP00000514470.1:p.Phe508Ser
ENST00000699602.1:c.1523T>C (CFTR)	ENSP00000514471.1:p.Phe508Ser
ENST00000699604.1:c.*1347T>C (CFTR)	ENSP00000514472.1:n.*1347T>C
ENST00000699605.1:c.1097T>C (CFTR)	ENSP00000514473.1:p.Phe366Ser
ENST00000003084.11:c.1523T>C (CFTR) MANE Select	ENSP00000003084.6:p.Phe508Ser
ENST00000647978.1:c.*1237T>C (CFTR)	ENSP00000497658.1:n.*1237T>C
ENST00000648260.1:c.1340T>C (CFTR)	ENSP00000497957.1:p.Phe447Ser
ENST00000649406.1:c.1340T>C (CFTR)	ENSP00000497965.1:p.Phe447Ser
ENST00000649781.1:c.1340T>C (CFTR)	ENSP00000497203.1:p.Phe447Ser
ENST00000003084.10:c.1523T>C (CFTR)	ENSP00000003084.6:p.Phe508Ser
ENST00000426809.5:c.1433T>C (CFTR)	ENSP00000389119.1:p.Phe478Ser
NM_000492.3:c.1523T>C , LRG_663t1:c.1523T>C (CFTR)	NP_000483.3:p.Phe508Ser
XM_011515751.1:c.1613T>C (CFTR)	XP_011514053.1:p.Phe538Ser
XM_011515752.1:c.1613T>C (CFTR)	XP_011514054.1:p.Phe538Ser
XM_011515753.1:c.1280T>C (CFTR)	XP_011514055.1:p.Phe427Ser
XM_011515754.1:c.1280T>C (CFTR)	XP_011514056.1:p.Phe427Ser
NR_149084.1:n.221+1139A>G (CFTR-AS1)
NM_000492.4:c.1523T>C (CFTR) MANE Select	NP_000483.3:p.Phe508Ser