Canonical Allele Identifier: CA368983305

Gene: CFTR

Linked Data

• dbSNP Id: rs2116222548
• MyVariant Identifiers: chr7:g.117305514A>G (hg19) ; chr7:g.117665460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665460A>G , CM000669.2:g.117665460A>G	GRCh38
NC_000007.13:g.117305514A>G , CM000669.1:g.117305514A>G	GRCh37
NC_000007.12:g.117092750A>G	NCBI36
NG_016465.4:g.204677A>G , LRG_663:g.204677A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*347A>G	ENSP00000497673.2:n.*347A>G
ENST00000647978.2:c.*3852A>G	ENSP00000497658.1:n.*3852A>G
ENST00000649781.2:c.3955A>G	ENSP00000497203.1:p.Thr1319Ala
ENST00000685018.2:c.*351A>G	ENSP00000510194.2:n.*351A>G
ENST00000687278.2:c.*791A>G	ENSP00000509593.2:n.*791A>G
ENST00000699585.1:c.*347A>G	ENSP00000514456.1:n.*347A>G
ENST00000699598.1:c.4138A>G	ENSP00000514467.1:p.Thr1380Ala
ENST00000699599.1:c.*351A>G	ENSP00000514468.1:n.*351A>G
ENST00000699600.1:c.*799A>G	ENSP00000514469.1:n.*799A>G
ENST00000699601.1:c.*2513A>G	ENSP00000514470.1:n.*2513A>G
ENST00000699602.1:c.4132A>G	ENSP00000514471.1:p.Thr1378Ala
ENST00000699604.1:c.*3962A>G	ENSP00000514472.1:n.*3962A>G
ENST00000699605.1:c.3712A>G	ENSP00000514473.1:p.Thr1238Ala
ENST00000699606.1:n.2306A>G
ENST00000685018.1:c.1002A>G	ENSP00000510194.1:n.1002A>G
ENST00000687278.1:c.1925A>G	ENSP00000509593.1:n.1925A>G
ENST00000689011.1:c.720A>G
ENST00000003084.11:c.4138A>G MANE Select	ENSP00000003084.6:p.Thr1380Ala
ENST00000647720.1:c.1588A>G
ENST00000649781.1:c.3955A>G	ENSP00000497203.1:p.Thr1319Ala
ENST00000003084.10:c.4138A>G	ENSP00000003084.6:p.Thr1380Ala
ENST00000426809.5:c.4048A>G	ENSP00000389119.1:p.Thr1350Ala
ENST00000600166.1:c.264A>G
NM_000492.3:c.4138A>G , LRG_663t1:c.4138A>G	NP_000483.3:p.Thr1380Ala
XM_011515751.1:c.4228A>G	XP_011514053.1:p.Thr1410Ala
XM_011515752.1:c.4228A>G	XP_011514054.1:p.Thr1410Ala
XM_011515753.1:c.3895A>G	XP_011514055.1:p.Thr1299Ala
XM_011515754.1:c.3895A>G	XP_011514056.1:p.Thr1299Ala
NM_000492.4:c.4138A>G MANE Select	NP_000483.3:p.Thr1380Ala