Canonical Allele Identifier: CA4451049

Gene: CFTR

Linked Data

• ClinVar Variation Id: 555335
• ClinVar RCV Id: RCV000671136 ; RCV000780116 ; RCV001829869
• dbSNP Id: rs762224063
• ExAC: 7:117227838 G / A
• gnomAD v2: 7-117227838-G-A
• gnomAD v3: 7-117587784-G-A
• gnomAD v4: 7-117587784-G-A
• MyVariant Identifiers: chr7:g.117227838G>A (hg19) ; chr7:g.117587784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587784G>A , CM000669.2:g.117587784G>A	GRCh38
NC_000007.13:g.117227838G>A , CM000669.1:g.117227838G>A	GRCh37
NC_000007.12:g.117015074G>A	NCBI36
NG_016465.4:g.127001G>A , LRG_663:g.127001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1630G>A	ENSP00000497673.2:p.Gly544Ser
ENST00000647978.2:c.*1344G>A	ENSP00000497658.1:n.*1344G>A
ENST00000649781.2:c.1447G>A	ENSP00000497203.1:p.Gly483Ser
ENST00000685018.2:c.1630G>A	ENSP00000510194.2:p.Gly544Ser
ENST00000687278.2:c.1630G>A	ENSP00000509593.2:p.Gly544Ser
ENST00000699585.1:c.1630G>A	ENSP00000514456.1:p.Gly544Ser
ENST00000699598.1:c.1630G>A	ENSP00000514467.1:p.Gly544Ser
ENST00000699599.1:c.1630G>A	ENSP00000514468.1:p.Gly544Ser
ENST00000699600.1:c.1630G>A	ENSP00000514469.1:p.Gly544Ser
ENST00000699601.1:c.1630G>A	ENSP00000514470.1:p.Gly544Ser
ENST00000699602.1:c.1630G>A	ENSP00000514471.1:p.Gly544Ser
ENST00000699604.1:c.*1454G>A	ENSP00000514472.1:n.*1454G>A
ENST00000699605.1:c.1204G>A	ENSP00000514473.1:p.Gly402Ser
ENST00000003084.11:c.1630G>A MANE Select	ENSP00000003084.6:p.Gly544Ser
ENST00000647978.1:c.*1344G>A	ENSP00000497658.1:n.*1344G>A
ENST00000648260.1:c.1402-15042G>A	ENSP00000497957.1:n.1402-15042G>A
ENST00000649406.1:c.1447G>A	ENSP00000497965.1:p.Gly483Ser
ENST00000649781.1:c.1447G>A	ENSP00000497203.1:p.Gly483Ser
ENST00000003084.10:c.1630G>A	ENSP00000003084.6:p.Gly544Ser
ENST00000426809.5:c.1540G>A	ENSP00000389119.1:p.Gly514Ser
NM_000492.3:c.1630G>A , LRG_663t1:c.1630G>A	NP_000483.3:p.Gly544Ser
XM_011515751.1:c.1720G>A	XP_011514053.1:p.Gly574Ser
XM_011515752.1:c.1720G>A	XP_011514054.1:p.Gly574Ser
XM_011515753.1:c.1387G>A	XP_011514055.1:p.Gly463Ser
XM_011515754.1:c.1387G>A	XP_011514056.1:p.Gly463Ser
NM_000492.4:c.1630G>A MANE Select	NP_000483.3:p.Gly544Ser