Canonical Allele Identifier: CA368977074

Gene: CFTR

Linked Data

• ClinVar Variation Id: 556179
• ClinVar RCV Id: RCV000672145 ; RCV003472145
• dbSNP Id: rs1375786834
• gnomAD v2: 7-117230424-C-A
• gnomAD v4: 7-117590370-C-A
• MyVariant Identifiers: chr7:g.117230424C>A (hg19) ; chr7:g.117590370C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590370C>A , CM000669.2:g.117590370C>A	GRCh38
NC_000007.13:g.117230424C>A , CM000669.1:g.117230424C>A	GRCh37
NC_000007.12:g.117017660C>A	NCBI36
NG_016465.4:g.129587C>A , LRG_663:g.129587C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1697C>A	ENSP00000497673.2:p.Ala566Asp
ENST00000647978.2:c.*1411C>A	ENSP00000497658.1:n.*1411C>A
ENST00000649781.2:c.1514C>A	ENSP00000497203.1:p.Ala505Asp
ENST00000685018.2:c.1697C>A	ENSP00000510194.2:p.Ala566Asp
ENST00000687278.2:c.1697C>A	ENSP00000509593.2:p.Ala566Asp
ENST00000699585.1:c.1697C>A	ENSP00000514456.1:p.Ala566Asp
ENST00000699598.1:c.1697C>A	ENSP00000514467.1:p.Ala566Asp
ENST00000699599.1:c.1697C>A	ENSP00000514468.1:p.Ala566Asp
ENST00000699600.1:c.1697C>A	ENSP00000514469.1:p.Ala566Asp
ENST00000699601.1:c.1692C>A	ENSP00000514470.1:p.Cys564Ter
ENST00000699602.1:c.1697C>A	ENSP00000514471.1:p.Ala566Asp
ENST00000699604.1:c.*1521C>A	ENSP00000514472.1:n.*1521C>A
ENST00000699605.1:c.1271C>A	ENSP00000514473.1:p.Ala424Asp
ENST00000003084.11:c.1697C>A MANE Select	ENSP00000003084.6:p.Ala566Asp
ENST00000647978.1:c.*1411C>A	ENSP00000497658.1:n.*1411C>A
ENST00000648260.1:c.1402-12456C>A	ENSP00000497957.1:n.1402-12456C>A
ENST00000649406.1:c.1514C>A	ENSP00000497965.1:p.Ala505Asp
ENST00000649781.1:c.1514C>A	ENSP00000497203.1:p.Ala505Asp
ENST00000003084.10:c.1697C>A	ENSP00000003084.6:p.Ala566Asp
ENST00000426809.5:c.1607C>A	ENSP00000389119.1:p.Ala536Asp
NM_000492.3:c.1697C>A , LRG_663t1:c.1697C>A	NP_000483.3:p.Ala566Asp
XM_011515751.1:c.1787C>A	XP_011514053.1:p.Ala596Asp
XM_011515752.1:c.1787C>A	XP_011514054.1:p.Ala596Asp
XM_011515753.1:c.1454C>A	XP_011514055.1:p.Ala485Asp
XM_011515754.1:c.1454C>A	XP_011514056.1:p.Ala485Asp
NM_000492.4:c.1697C>A MANE Select	NP_000483.3:p.Ala566Asp