Canonical Allele Identifier: CA368974884

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282562C>G (hg19) ; chr7:g.117642508C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642508C>G , CM000669.2:g.117642508C>G	GRCh38
NC_000007.13:g.117282562C>G , CM000669.1:g.117282562C>G	GRCh37
NC_000007.12:g.117069798C>G	NCBI36
NG_016465.4:g.181725C>G , LRG_663:g.181725C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3588C>G	ENSP00000497673.2:p.His1196Gln
ENST00000647978.2:c.*3502C>G	ENSP00000497658.1:n.*3502C>G
ENST00000649781.2:c.3605C>G	ENSP00000497203.1:p.Thr1202Ser
ENST00000685018.2:c.3788C>G	ENSP00000510194.2:p.Thr1263Ser
ENST00000687278.2:c.*441C>G	ENSP00000509593.2:n.*441C>G
ENST00000699585.1:c.3588C>G	ENSP00000514456.1:p.His1196Gln
ENST00000699598.1:c.3788C>G	ENSP00000514467.1:p.Thr1263Ser
ENST00000699599.1:c.3788C>G	ENSP00000514468.1:p.Thr1263Ser
ENST00000699600.1:c.*449C>G	ENSP00000514469.1:n.*449C>G
ENST00000699601.1:c.*2163C>G	ENSP00000514470.1:n.*2163C>G
ENST00000699602.1:c.3782C>G	ENSP00000514471.1:p.Thr1261Ser
ENST00000699604.1:c.*3612C>G	ENSP00000514472.1:n.*3612C>G
ENST00000699605.1:c.3362C>G	ENSP00000514473.1:p.Thr1121Ser
ENST00000685018.1:c.536C>G	ENSP00000510194.1:p.Thr179Ser
ENST00000687278.1:c.1575C>G	ENSP00000509593.1:n.1575C>G
ENST00000689011.1:c.370C>G
ENST00000003084.11:c.3788C>G MANE Select	ENSP00000003084.6:p.Thr1263Ser
ENST00000647720.1:c.1238C>G
ENST00000649781.1:c.3605C>G	ENSP00000497203.1:p.Thr1202Ser
ENST00000003084.10:c.3788C>G	ENSP00000003084.6:p.Thr1263Ser
ENST00000426809.5:c.3698C>G	ENSP00000389119.1:p.Thr1233Ser
NM_000492.3:c.3788C>G , LRG_663t1:c.3788C>G	NP_000483.3:p.Thr1263Ser
XM_011515751.1:c.3878C>G	XP_011514053.1:p.Thr1293Ser
XM_011515752.1:c.3878C>G	XP_011514054.1:p.Thr1293Ser
XM_011515753.1:c.3545C>G	XP_011514055.1:p.Thr1182Ser
XM_011515754.1:c.3545C>G	XP_011514056.1:p.Thr1182Ser
NM_000492.4:c.3788C>G MANE Select	NP_000483.3:p.Thr1263Ser