Canonical Allele Identifier: CA368974582

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282528A>G (hg19) ; chr7:g.117642474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642474A>G , CM000669.2:g.117642474A>G	GRCh38
NC_000007.13:g.117282528A>G , CM000669.1:g.117282528A>G	GRCh37
NC_000007.12:g.117069764A>G	NCBI36
NG_016465.4:g.181691A>G , LRG_663:g.181691A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3554A>G	ENSP00000497673.2:p.Tyr1185Cys
ENST00000647978.2:c.*3468A>G	ENSP00000497658.1:n.*3468A>G
ENST00000649781.2:c.3571A>G	ENSP00000497203.1:p.Thr1191Ala
ENST00000685018.2:c.3754A>G	ENSP00000510194.2:p.Thr1252Ala
ENST00000687278.2:c.*407A>G	ENSP00000509593.2:n.*407A>G
ENST00000699585.1:c.3554A>G	ENSP00000514456.1:p.Tyr1185Cys
ENST00000699598.1:c.3754A>G	ENSP00000514467.1:p.Thr1252Ala
ENST00000699599.1:c.3754A>G	ENSP00000514468.1:p.Thr1252Ala
ENST00000699600.1:c.*415A>G	ENSP00000514469.1:n.*415A>G
ENST00000699601.1:c.*2129A>G	ENSP00000514470.1:n.*2129A>G
ENST00000699602.1:c.3748A>G	ENSP00000514471.1:p.Thr1250Ala
ENST00000699604.1:c.*3578A>G	ENSP00000514472.1:n.*3578A>G
ENST00000699605.1:c.3328A>G	ENSP00000514473.1:p.Thr1110Ala
ENST00000685018.1:c.502A>G	ENSP00000510194.1:p.Thr168Ala
ENST00000687278.1:c.1541A>G	ENSP00000509593.1:n.1541A>G
ENST00000689011.1:c.336A>G
ENST00000003084.11:c.3754A>G MANE Select	ENSP00000003084.6:p.Thr1252Ala
ENST00000647720.1:c.1204A>G
ENST00000649781.1:c.3571A>G	ENSP00000497203.1:p.Thr1191Ala
ENST00000003084.10:c.3754A>G	ENSP00000003084.6:p.Thr1252Ala
ENST00000426809.5:c.3664A>G	ENSP00000389119.1:p.Thr1222Ala
NM_000492.3:c.3754A>G , LRG_663t1:c.3754A>G	NP_000483.3:p.Thr1252Ala
XM_011515751.1:c.3844A>G	XP_011514053.1:p.Thr1282Ala
XM_011515752.1:c.3844A>G	XP_011514054.1:p.Thr1282Ala
XM_011515753.1:c.3511A>G	XP_011514055.1:p.Thr1171Ala
XM_011515754.1:c.3511A>G	XP_011514056.1:p.Thr1171Ala
NM_000492.4:c.3754A>G MANE Select	NP_000483.3:p.Thr1252Ala