Canonical Allele Identifier: CA368978501

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292957A>C (hg19) ; chr7:g.117652903A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652903A>C , CM000669.2:g.117652903A>C	GRCh38
NC_000007.13:g.117292957A>C , CM000669.1:g.117292957A>C	GRCh37
NC_000007.12:g.117080193A>C	NCBI36
NG_016465.4:g.192120A>C , LRG_663:g.192120A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*144A>C	ENSP00000497673.2:n.*144A>C
ENST00000647978.2:c.*3649A>C	ENSP00000497658.1:n.*3649A>C
ENST00000649781.2:c.3752A>C	ENSP00000497203.1:p.Asp1251Ala
ENST00000685018.2:c.*148A>C	ENSP00000510194.2:n.*148A>C
ENST00000687278.2:c.*588A>C	ENSP00000509593.2:n.*588A>C
ENST00000699585.1:c.*144A>C	ENSP00000514456.1:n.*144A>C
ENST00000699598.1:c.3935A>C	ENSP00000514467.1:p.Asp1312Ala
ENST00000699599.1:c.*148A>C	ENSP00000514468.1:n.*148A>C
ENST00000699600.1:c.*596A>C	ENSP00000514469.1:n.*596A>C
ENST00000699601.1:c.*2310A>C	ENSP00000514470.1:n.*2310A>C
ENST00000699602.1:c.3929A>C	ENSP00000514471.1:p.Asp1310Ala
ENST00000699604.1:c.*3759A>C	ENSP00000514472.1:n.*3759A>C
ENST00000699605.1:c.3509A>C	ENSP00000514473.1:p.Asp1170Ala
ENST00000699606.1:n.2103A>C
ENST00000685018.1:c.799A>C	ENSP00000510194.1:n.799A>C
ENST00000687278.1:c.1722A>C	ENSP00000509593.1:n.1722A>C
ENST00000689011.1:c.517A>C
ENST00000003084.11:c.3935A>C MANE Select	ENSP00000003084.6:p.Asp1312Ala
ENST00000647720.1:c.1385A>C
ENST00000649781.1:c.3752A>C	ENSP00000497203.1:p.Asp1251Ala
ENST00000003084.10:c.3935A>C	ENSP00000003084.6:p.Asp1312Ala
ENST00000426809.5:c.3845A>C	ENSP00000389119.1:p.Asp1282Ala
ENST00000600166.1:c.61A>C
NM_000492.3:c.3935A>C , LRG_663t1:c.3935A>C	NP_000483.3:p.Asp1312Ala
XM_011515751.1:c.4025A>C	XP_011514053.1:p.Asp1342Ala
XM_011515752.1:c.4025A>C	XP_011514054.1:p.Asp1342Ala
XM_011515753.1:c.3692A>C	XP_011514055.1:p.Asp1231Ala
XM_011515754.1:c.3692A>C	XP_011514056.1:p.Asp1231Ala
NM_000492.4:c.3935A>C MANE Select	NP_000483.3:p.Asp1312Ala