Canonical Allele Identifier: CA368975318

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282605A>G (hg19) ; chr7:g.117642551A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642551A>G , CM000669.2:g.117642551A>G	GRCh38
NC_000007.13:g.117282605A>G , CM000669.1:g.117282605A>G	GRCh37
NC_000007.12:g.117069841A>G	NCBI36
NG_016465.4:g.181768A>G , LRG_663:g.181768A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*40A>G	ENSP00000497673.2:n.*40A>G
ENST00000647978.2:c.*3545A>G	ENSP00000497658.1:n.*3545A>G
ENST00000649781.2:c.3648A>G	ENSP00000497203.1:p.Ile1216Met
ENST00000685018.2:c.3831A>G	ENSP00000510194.2:p.Ile1277Met
ENST00000687278.2:c.*484A>G	ENSP00000509593.2:n.*484A>G
ENST00000699585.1:c.*40A>G	ENSP00000514456.1:n.*40A>G
ENST00000699598.1:c.3831A>G	ENSP00000514467.1:p.Ile1277Met
ENST00000699599.1:c.3831A>G	ENSP00000514468.1:p.Ile1277Met
ENST00000699600.1:c.*492A>G	ENSP00000514469.1:n.*492A>G
ENST00000699601.1:c.*2206A>G	ENSP00000514470.1:n.*2206A>G
ENST00000699602.1:c.3825A>G	ENSP00000514471.1:p.Ile1275Met
ENST00000699604.1:c.*3655A>G	ENSP00000514472.1:n.*3655A>G
ENST00000699605.1:c.3405A>G	ENSP00000514473.1:p.Ile1135Met
ENST00000685018.1:c.579A>G	ENSP00000510194.1:p.Ile193Met
ENST00000687278.1:c.1618A>G	ENSP00000509593.1:n.1618A>G
ENST00000689011.1:c.413A>G
ENST00000003084.11:c.3831A>G MANE Select	ENSP00000003084.6:p.Ile1277Met
ENST00000647720.1:c.1281A>G
ENST00000649781.1:c.3648A>G	ENSP00000497203.1:p.Ile1216Met
ENST00000003084.10:c.3831A>G	ENSP00000003084.6:p.Ile1277Met
ENST00000426809.5:c.3741A>G	ENSP00000389119.1:p.Ile1247Met
NM_000492.3:c.3831A>G , LRG_663t1:c.3831A>G	NP_000483.3:p.Ile1277Met
XM_011515751.1:c.3921A>G	XP_011514053.1:p.Ile1307Met
XM_011515752.1:c.3921A>G	XP_011514054.1:p.Ile1307Met
XM_011515753.1:c.3588A>G	XP_011514055.1:p.Ile1196Met
XM_011515754.1:c.3588A>G	XP_011514056.1:p.Ile1196Met
NM_000492.4:c.3831A>G MANE Select	NP_000483.3:p.Ile1277Met