Canonical Allele Identifier: CA326888

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53543
• ClinVar RCV Id: RCV000667642 ; RCV001265632 ; RCV000508371 ; RCV001158765 ; RCV001284478 ; RCV002257389
• dbSNP Id: rs201864483
• ExAC: 7:117243612 G / A
• gnomAD v2: 7-117243612-G-A
• gnomAD v3: 7-117603558-G-A
• gnomAD v4: 7-117603558-G-A
• MyVariant Identifiers: chr7:g.117243612G>A (hg19) ; chr7:g.117603558G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603558G>A , CM000669.2:g.117603558G>A	GRCh38
NC_000007.13:g.117243612G>A , CM000669.1:g.117243612G>A	GRCh37
NC_000007.12:g.117030848G>A	NCBI36
NG_016465.4:g.142775G>A , LRG_663:g.142775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2684G>A	ENSP00000497673.2:p.Ser895Asn
ENST00000647978.2:c.*2398G>A	ENSP00000497658.1:n.*2398G>A
ENST00000649781.2:c.2501G>A	ENSP00000497203.1:p.Ser834Asn
ENST00000685018.2:c.2684G>A	ENSP00000510194.2:p.Ser895Asn
ENST00000687278.2:c.2684G>A	ENSP00000509593.2:p.Ser895Asn
ENST00000699585.1:c.2684G>A	ENSP00000514456.1:p.Ser895Asn
ENST00000699598.1:c.2684G>A	ENSP00000514467.1:p.Ser895Asn
ENST00000699599.1:c.2684G>A	ENSP00000514468.1:p.Ser895Asn
ENST00000699600.1:c.2684G>A	ENSP00000514469.1:p.Ser895Asn
ENST00000699601.1:c.*984G>A	ENSP00000514470.1:n.*984G>A
ENST00000699602.1:c.2684G>A	ENSP00000514471.1:p.Ser895Asn
ENST00000699604.1:c.*2508G>A	ENSP00000514472.1:n.*2508G>A
ENST00000699605.1:c.2258G>A	ENSP00000514473.1:p.Ser753Asn
ENST00000687278.1:c.275G>A	ENSP00000509593.1:p.Ser92Asn
ENST00000003084.11:c.2684G>A MANE Select	ENSP00000003084.6:p.Ser895Asn
ENST00000647720.1:c.334G>A
ENST00000648260.1:c.1466G>A	ENSP00000497957.1:p.Ser489Asn
ENST00000649406.1:c.2501G>A	ENSP00000497965.1:p.Ser834Asn
ENST00000649781.1:c.2501G>A	ENSP00000497203.1:p.Ser834Asn
ENST00000003084.10:c.2684G>A	ENSP00000003084.6:p.Ser895Asn
ENST00000426809.5:c.2594G>A	ENSP00000389119.1:p.Ser865Asn
NM_000492.3:c.2684G>A , LRG_663t1:c.2684G>A	NP_000483.3:p.Ser895Asn
XM_011515751.1:c.2774G>A	XP_011514053.1:p.Ser925Asn
XM_011515752.1:c.2774G>A	XP_011514054.1:p.Ser925Asn
XM_011515753.1:c.2441G>A	XP_011514055.1:p.Ser814Asn
XM_011515754.1:c.2441G>A	XP_011514056.1:p.Ser814Asn
NM_000492.4:c.2684G>A MANE Select	NP_000483.3:p.Ser895Asn