Canonical Allele Identifier: CA577227573

Gene: CFTR

Linked Data

• dbSNP Id: rs1181241967
• gnomAD v2: 7-117306941-C-T
• MyVariant Identifiers: chr7:g.117306941C>T (hg19) ; chr7:g.117666887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666887C>T , CM000669.2:g.117666887C>T	GRCh38
NC_000007.13:g.117306941C>T , CM000669.1:g.117306941C>T	GRCh37
NC_000007.12:g.117094177C>T	NCBI36
NG_016465.4:g.206104C>T , LRG_663:g.206104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*452-21C>T	ENSP00000497673.2:n.*452-21C>T
ENST00000647978.2:c.*3957-21C>T	ENSP00000497658.1:n.*3957-21C>T
ENST00000649781.2:c.4060-21C>T	ENSP00000497203.1:n.4060-21C>T
ENST00000685018.2:c.*456-21C>T	ENSP00000510194.2:n.*456-21C>T
ENST00000687278.2:c.*896-715C>T	ENSP00000509593.2:n.*896-715C>T
ENST00000699585.1:c.*691C>T	ENSP00000514456.1:n.*691C>T
ENST00000699598.1:c.4243-28C>T	ENSP00000514467.1:n.4243-28C>T
ENST00000699599.1:c.*456-21C>T	ENSP00000514468.1:n.*456-21C>T
ENST00000699600.1:c.*904-715C>T	ENSP00000514469.1:n.*904-715C>T
ENST00000699601.1:c.*2618-21C>T	ENSP00000514470.1:n.*2618-21C>T
ENST00000699602.1:c.4237-21C>T	ENSP00000514471.1:n.4237-21C>T
ENST00000699604.1:c.*4067-21C>T	ENSP00000514472.1:n.*4067-21C>T
ENST00000699605.1:c.3817-21C>T	ENSP00000514473.1:n.3817-21C>T
ENST00000699606.1:n.3733C>T
ENST00000685018.1:c.1107-21C>T	ENSP00000510194.1:n.1107-21C>T
ENST00000687278.1:c.2030-715C>T	ENSP00000509593.1:n.2030-715C>T
ENST00000689011.1:c.1064C>T
ENST00000003084.11:c.4243-21C>T MANE Select	ENSP00000003084.6:n.4243-21C>T
ENST00000647720.1:c.1693-21C>T
ENST00000649781.1:c.4060-21C>T	ENSP00000497203.1:n.4060-21C>T
ENST00000003084.10:c.4243-21C>T	ENSP00000003084.6:n.4243-21C>T
ENST00000426809.5:c.4153-21C>T	ENSP00000389119.1:n.4153-21C>T
ENST00000600166.1:c.368+1323C>T
NM_000492.3:c.4243-21C>T , LRG_663t1:c.4243-21C>T	NP_000483.3:n.4243-21C>T
XM_011515751.1:c.4333-21C>T	XP_011514053.1:n.4333-21C>T
XM_011515752.1:c.*222C>T	XP_011514054.1:n.*222C>T
XM_011515753.1:c.4000-21C>T	XP_011514055.1:n.4000-21C>T
XM_011515754.1:c.4000-21C>T	XP_011514056.1:n.4000-21C>T
NM_000492.4:c.4243-21C>T MANE Select	NP_000483.3:n.4243-21C>T