Canonical Allele Identifier: CA368984578

Gene: CFTR CFTR-AS1

Linked Data

• gnomAD v4: 7-117559559-G-T
• MyVariant Identifiers: chr7:g.117199613G>T (hg19) ; chr7:g.117559559G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559559G>T , CM000669.2:g.117559559G>T	GRCh38
NC_000007.13:g.117199613G>T , CM000669.1:g.117199613G>T	GRCh37
NC_000007.12:g.116986849G>T	NCBI36
NG_016465.4:g.98776G>T , LRG_663:g.98776G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1488G>T (CFTR)	ENSP00000497673.2:p.Trp496Cys
ENST00000647978.2:c.*1202G>T (CFTR)	ENSP00000497658.1:n.*1202G>T
ENST00000649781.2:c.1305G>T (CFTR)	ENSP00000497203.1:p.Trp435Cys
ENST00000685018.2:c.1488G>T (CFTR)	ENSP00000510194.2:p.Trp496Cys
ENST00000687278.2:c.1488G>T (CFTR)	ENSP00000509593.2:p.Trp496Cys
ENST00000699585.1:c.1488G>T (CFTR)	ENSP00000514456.1:p.Trp496Cys
ENST00000699596.1:c.1488G>T (CFTR)	ENSP00000514465.1:p.Trp496Cys
ENST00000699597.1:c.*46G>T (CFTR)	ENSP00000514466.1:n.*46G>T
ENST00000699598.1:c.1488G>T (CFTR)	ENSP00000514467.1:p.Trp496Cys
ENST00000699599.1:c.1488G>T (CFTR)	ENSP00000514468.1:p.Trp496Cys
ENST00000699600.1:c.1488G>T (CFTR)	ENSP00000514469.1:p.Trp496Cys
ENST00000699601.1:c.1488G>T (CFTR)	ENSP00000514470.1:p.Trp496Cys
ENST00000699602.1:c.1488G>T (CFTR)	ENSP00000514471.1:p.Trp496Cys
ENST00000699604.1:c.*1312G>T (CFTR)	ENSP00000514472.1:n.*1312G>T
ENST00000699605.1:c.1062G>T (CFTR)	ENSP00000514473.1:p.Trp354Cys
ENST00000003084.11:c.1488G>T (CFTR) MANE Select	ENSP00000003084.6:p.Trp496Cys
ENST00000647978.1:c.*1202G>T (CFTR)	ENSP00000497658.1:n.*1202G>T
ENST00000648260.1:c.1305G>T (CFTR)	ENSP00000497957.1:p.Trp435Cys
ENST00000649406.1:c.1305G>T (CFTR)	ENSP00000497965.1:p.Trp435Cys
ENST00000649781.1:c.1305G>T (CFTR)	ENSP00000497203.1:p.Trp435Cys
ENST00000003084.10:c.1488G>T (CFTR)	ENSP00000003084.6:p.Trp496Cys
ENST00000426809.5:c.1398G>T (CFTR)	ENSP00000389119.1:p.Trp466Cys
NM_000492.3:c.1488G>T , LRG_663t1:c.1488G>T (CFTR)	NP_000483.3:p.Trp496Cys
XM_011515751.1:c.1578G>T (CFTR)	XP_011514053.1:p.Trp526Cys
XM_011515752.1:c.1578G>T (CFTR)	XP_011514054.1:p.Trp526Cys
XM_011515753.1:c.1245G>T (CFTR)	XP_011514055.1:p.Trp415Cys
XM_011515754.1:c.1245G>T (CFTR)	XP_011514056.1:p.Trp415Cys
NR_149084.1:n.221+1174C>A (CFTR-AS1)
NM_000492.4:c.1488G>T (CFTR) MANE Select	NP_000483.3:p.Trp496Cys