Canonical Allele Identifier: CA368996135

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2447412
• ClinVar RCV Id: RCV003165235
• dbSNP Id: rs1387464528
• gnomAD v3: 7-117627558-A-G
• gnomAD v4: 7-117627558-A-G
• MyVariant Identifiers: chr7:g.117267612A>G (hg19) ; chr7:g.117627558A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627558A>G , CM000669.2:g.117627558A>G	GRCh38
NC_000007.13:g.117267612A>G , CM000669.1:g.117267612A>G	GRCh37
NC_000007.12:g.117054848A>G	NCBI36
NG_016465.4:g.166775A>G , LRG_663:g.166775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3505A>G	ENSP00000497673.2:p.Met1169Val
ENST00000647978.2:c.*3219A>G	ENSP00000497658.1:n.*3219A>G
ENST00000649781.2:c.3322A>G	ENSP00000497203.1:p.Met1108Val
ENST00000685018.2:c.3505A>G	ENSP00000510194.2:p.Met1169Val
ENST00000687278.2:c.*158A>G	ENSP00000509593.2:n.*158A>G
ENST00000699585.1:c.3505A>G	ENSP00000514456.1:p.Met1169Val
ENST00000699598.1:c.3505A>G	ENSP00000514467.1:p.Met1169Val
ENST00000699599.1:c.3505A>G	ENSP00000514468.1:p.Met1169Val
ENST00000699600.1:c.*166A>G	ENSP00000514469.1:n.*166A>G
ENST00000699601.1:c.*1880A>G	ENSP00000514470.1:n.*1880A>G
ENST00000699602.1:c.3499A>G	ENSP00000514471.1:p.Met1167Val
ENST00000699604.1:c.*3329A>G	ENSP00000514472.1:n.*3329A>G
ENST00000699605.1:c.3079A>G	ENSP00000514473.1:p.Met1027Val
ENST00000685018.1:c.253A>G	ENSP00000510194.1:p.Met85Val
ENST00000687278.1:c.1292A>G	ENSP00000509593.1:n.1292A>G
ENST00000689011.1:c.87A>G
ENST00000003084.11:c.3505A>G MANE Select	ENSP00000003084.6:p.Met1169Val
ENST00000647720.1:c.1155A>G
ENST00000648260.1:c.2287A>G	ENSP00000497957.1:p.Met763Val
ENST00000649406.1:c.3322A>G	ENSP00000497965.1:p.Met1108Val
ENST00000649781.1:c.3322A>G	ENSP00000497203.1:p.Met1108Val
ENST00000003084.10:c.3505A>G	ENSP00000003084.6:p.Met1169Val
ENST00000426809.5:c.3415A>G	ENSP00000389119.1:p.Met1139Val
ENST00000468795.1:c.330A>G
NM_000492.3:c.3505A>G , LRG_663t1:c.3505A>G	NP_000483.3:p.Met1169Val
XM_011515751.1:c.3595A>G	XP_011514053.1:p.Met1199Val
XM_011515752.1:c.3595A>G	XP_011514054.1:p.Met1199Val
XM_011515753.1:c.3262A>G	XP_011514055.1:p.Met1088Val
XM_011515754.1:c.3262A>G	XP_011514056.1:p.Met1088Val
NM_000492.4:c.3505A>G MANE Select	NP_000483.3:p.Met1169Val