Canonical Allele Identifier: CA368979818

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1312599
• ClinVar RCV Id: RCV001761487 ; RCV001885036
• dbSNP Id: rs1562892823
• gnomAD v4: 7-117542025-C-A
• MyVariant Identifiers: chr7:g.117182079C>A (hg19) ; chr7:g.117542025C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117542025C>A , CM000669.2:g.117542025C>A	GRCh38
NC_000007.13:g.117182079C>A , CM000669.1:g.117182079C>A	GRCh37
NC_000007.12:g.116969315C>A	NCBI36
NG_016465.4:g.81242C>A , LRG_663:g.81242C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1126C>A	ENSP00000497673.2:p.Gln376Lys
ENST00000647978.2:c.*1023C>A	ENSP00000497658.1:n.*1023C>A
ENST00000649781.2:c.1126C>A	ENSP00000497203.1:p.Gln376Lys
ENST00000685018.2:c.1126C>A	ENSP00000510194.2:p.Gln376Lys
ENST00000687278.2:c.1126C>A	ENSP00000509593.2:p.Gln376Lys
ENST00000699585.1:c.1126C>A	ENSP00000514456.1:p.Gln376Lys
ENST00000699596.1:c.1126C>A	ENSP00000514465.1:p.Gln376Lys
ENST00000699597.1:c.1126C>A	ENSP00000514466.1:p.Gln376Lys
ENST00000699598.1:c.1126C>A	ENSP00000514467.1:p.Gln376Lys
ENST00000699599.1:c.1126C>A	ENSP00000514468.1:p.Gln376Lys
ENST00000699600.1:c.1126C>A	ENSP00000514469.1:p.Gln376Lys
ENST00000699601.1:c.1126C>A	ENSP00000514470.1:p.Gln376Lys
ENST00000699602.1:c.1126C>A	ENSP00000514471.1:p.Gln376Lys
ENST00000699604.1:c.*950C>A	ENSP00000514472.1:n.*950C>A
ENST00000699605.1:c.883C>A	ENSP00000514473.1:p.Gln295Lys
ENST00000003084.11:c.1126C>A MANE Select	ENSP00000003084.6:p.Gln376Lys
ENST00000647978.1:c.*1023C>A	ENSP00000497658.1:n.*1023C>A
ENST00000648260.1:c.1126C>A	ENSP00000497957.1:p.Gln376Lys
ENST00000649406.1:c.1126C>A	ENSP00000497965.1:p.Gln376Lys
ENST00000649781.1:c.1126C>A	ENSP00000497203.1:p.Gln376Lys
ENST00000673785.1:c.883C>A	ENSP00000501235.1:p.Gln295Lys
ENST00000003084.10:c.1126C>A	ENSP00000003084.6:p.Gln376Lys
ENST00000426809.5:c.1036C>A	ENSP00000389119.1:p.Gln346Lys
NM_000492.3:c.1126C>A , LRG_663t1:c.1126C>A	NP_000483.3:p.Gln376Lys
XM_011515751.1:c.1216C>A	XP_011514053.1:p.Gln406Lys
XM_011515752.1:c.1216C>A	XP_011514054.1:p.Gln406Lys
XM_011515753.1:c.883C>A	XP_011514055.1:p.Gln295Lys
XM_011515754.1:c.883C>A	XP_011514056.1:p.Gln295Lys
NM_000492.4:c.1126C>A MANE Select	NP_000483.3:p.Gln376Lys