Canonical Allele Identifier: CA4451557

Gene: CFTR

Linked Data

• ClinVar Variation Id: 594645
• ClinVar RCV Id: RCV000729989 ; RCV001193707
• dbSNP Id: rs547248892
• ExAC: 7:117282626 A / G
• gnomAD v2: 7-117282626-A-G
• gnomAD v3: 7-117642572-A-G
• gnomAD v4: 7-117642572-A-G
• MyVariant Identifiers: chr7:g.117282626A>G (hg19) ; chr7:g.117642572A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642572A>G , CM000669.2:g.117642572A>G	GRCh38
NC_000007.13:g.117282626A>G , CM000669.1:g.117282626A>G	GRCh37
NC_000007.12:g.117069862A>G	NCBI36
NG_016465.4:g.181789A>G , LRG_663:g.181789A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*61A>G	ENSP00000497673.2:n.*61A>G
ENST00000647978.2:c.*3566A>G	ENSP00000497658.1:n.*3566A>G
ENST00000649781.2:c.3669A>G	ENSP00000497203.1:p.Lys1223=
ENST00000685018.2:c.3852A>G	ENSP00000510194.2:p.Lys1284=
ENST00000687278.2:c.*505A>G	ENSP00000509593.2:n.*505A>G
ENST00000699585.1:c.*61A>G	ENSP00000514456.1:n.*61A>G
ENST00000699598.1:c.3852A>G	ENSP00000514467.1:p.Lys1284=
ENST00000699599.1:c.3852A>G	ENSP00000514468.1:p.Lys1284=
ENST00000699600.1:c.*513A>G	ENSP00000514469.1:n.*513A>G
ENST00000699601.1:c.*2227A>G	ENSP00000514470.1:n.*2227A>G
ENST00000699602.1:c.3846A>G	ENSP00000514471.1:p.Lys1282=
ENST00000699604.1:c.*3676A>G	ENSP00000514472.1:n.*3676A>G
ENST00000699605.1:c.3426A>G	ENSP00000514473.1:p.Lys1142=
ENST00000685018.1:c.600A>G	ENSP00000510194.1:p.Lys200=
ENST00000687278.1:c.1639A>G	ENSP00000509593.1:n.1639A>G
ENST00000689011.1:c.434A>G
ENST00000003084.11:c.3852A>G MANE Select	ENSP00000003084.6:p.Lys1284=
ENST00000647720.1:c.1302A>G
ENST00000649781.1:c.3669A>G	ENSP00000497203.1:p.Lys1223=
ENST00000003084.10:c.3852A>G	ENSP00000003084.6:p.Lys1284=
ENST00000426809.5:c.3762A>G	ENSP00000389119.1:p.Lys1254=
NM_000492.3:c.3852A>G , LRG_663t1:c.3852A>G	NP_000483.3:p.Lys1284=
XM_011515751.1:c.3942A>G	XP_011514053.1:p.Lys1314=
XM_011515752.1:c.3942A>G	XP_011514054.1:p.Lys1314=
XM_011515753.1:c.3609A>G	XP_011514055.1:p.Lys1203=
XM_011515754.1:c.3609A>G	XP_011514056.1:p.Lys1203=
NM_000492.4:c.3852A>G MANE Select	NP_000483.3:p.Lys1284=