Canonical Allele Identifier: CA327016

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53630
• ClinVar RCV Id: RCV000577813
• dbSNP Id: rs397508483
• ExAC: 7:117250607 T / A
• gnomAD v2: 7-117250607-T-A
• gnomAD v4: 7-117610553-T-A
• MyVariant Identifiers: chr7:g.117250607T>A (hg19) ; chr7:g.117610553T>A (hg38)
• PubMed: PMID:17331079

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610553T>A , CM000669.2:g.117610553T>A	GRCh38
NC_000007.13:g.117250607T>A , CM000669.1:g.117250607T>A	GRCh37
NC_000007.12:g.117037843T>A	NCBI36
NG_016465.4:g.149770T>A , LRG_663:g.149770T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3023T>A	ENSP00000497673.2:p.Val1008Asp
ENST00000647978.2:c.*2737T>A	ENSP00000497658.1:n.*2737T>A
ENST00000649781.2:c.2840T>A	ENSP00000497203.1:p.Val947Asp
ENST00000685018.2:c.3023T>A	ENSP00000510194.2:p.Val1008Asp
ENST00000687278.2:c.3023T>A	ENSP00000509593.2:p.Val1008Asp
ENST00000699585.1:c.3023T>A	ENSP00000514456.1:p.Val1008Asp
ENST00000699598.1:c.3023T>A	ENSP00000514467.1:p.Val1008Asp
ENST00000699599.1:c.3023T>A	ENSP00000514468.1:p.Val1008Asp
ENST00000699600.1:c.3023T>A	ENSP00000514469.1:p.Val1008Asp
ENST00000699601.1:c.*1323T>A	ENSP00000514470.1:n.*1323T>A
ENST00000699602.1:c.3023T>A	ENSP00000514471.1:p.Val1008Asp
ENST00000699604.1:c.*2847T>A	ENSP00000514472.1:n.*2847T>A
ENST00000699605.1:c.2597T>A	ENSP00000514473.1:p.Val866Asp
ENST00000687278.1:c.614T>A	ENSP00000509593.1:p.Val205Asp
ENST00000003084.11:c.3023T>A MANE Select	ENSP00000003084.6:p.Val1008Asp
ENST00000647720.1:c.673T>A
ENST00000648260.1:c.1805T>A	ENSP00000497957.1:p.Val602Asp
ENST00000649406.1:c.2840T>A	ENSP00000497965.1:p.Val947Asp
ENST00000649781.1:c.2840T>A	ENSP00000497203.1:p.Val947Asp
ENST00000003084.10:c.3023T>A	ENSP00000003084.6:p.Val1008Asp
ENST00000426809.5:c.2933T>A	ENSP00000389119.1:p.Val978Asp
NM_000492.3:c.3023T>A , LRG_663t1:c.3023T>A	NP_000483.3:p.Val1008Asp
XM_011515751.1:c.3113T>A	XP_011514053.1:p.Val1038Asp
XM_011515752.1:c.3113T>A	XP_011514054.1:p.Val1038Asp
XM_011515753.1:c.2780T>A	XP_011514055.1:p.Val927Asp
XM_011515754.1:c.2780T>A	XP_011514056.1:p.Val927Asp
NM_000492.4:c.3023T>A MANE Select	NP_000483.3:p.Val1008Asp