Canonical Allele Identifier: CA368992478

Gene: CFTR

Linked Data

• dbSNP Id: rs1792392572
• gnomAD v3: 7-117611750-A-G
• gnomAD v4: 7-117611750-A-G
• MyVariant Identifiers: chr7:g.117251804A>G (hg19) ; chr7:g.117611750A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611750A>G , CM000669.2:g.117611750A>G	GRCh38
NC_000007.13:g.117251804A>G , CM000669.1:g.117251804A>G	GRCh37
NC_000007.12:g.117039040A>G	NCBI36
NG_016465.4:g.150967A>G , LRG_663:g.150967A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3309A>G	ENSP00000497673.2:p.Ile1103Met
ENST00000647978.2:c.*3023A>G	ENSP00000497658.1:n.*3023A>G
ENST00000649781.2:c.3126A>G	ENSP00000497203.1:p.Ile1042Met
ENST00000685018.2:c.3309A>G	ENSP00000510194.2:p.Ile1103Met
ENST00000687278.2:c.3309A>G	ENSP00000509593.2:p.Ile1103Met
ENST00000699585.1:c.3309A>G	ENSP00000514456.1:p.Ile1103Met
ENST00000699598.1:c.3309A>G	ENSP00000514467.1:p.Ile1103Met
ENST00000699599.1:c.3309A>G	ENSP00000514468.1:p.Ile1103Met
ENST00000699600.1:c.3309A>G	ENSP00000514469.1:p.Ile1103Met
ENST00000699601.1:c.*1609A>G	ENSP00000514470.1:n.*1609A>G
ENST00000699602.1:c.3309A>G	ENSP00000514471.1:p.Ile1103Met
ENST00000699604.1:c.*3133A>G	ENSP00000514472.1:n.*3133A>G
ENST00000699605.1:c.2883A>G	ENSP00000514473.1:p.Ile961Met
ENST00000685018.1:c.57A>G	ENSP00000510194.1:p.Ile19Met
ENST00000687278.1:c.900A>G	ENSP00000509593.1:p.Ile300Met
ENST00000003084.11:c.3309A>G MANE Select	ENSP00000003084.6:p.Ile1103Met
ENST00000647720.1:c.959A>G
ENST00000648260.1:c.2091A>G	ENSP00000497957.1:p.Ile697Met
ENST00000649406.1:c.3126A>G	ENSP00000497965.1:p.Ile1042Met
ENST00000649781.1:c.3126A>G	ENSP00000497203.1:p.Ile1042Met
ENST00000003084.10:c.3309A>G	ENSP00000003084.6:p.Ile1103Met
ENST00000426809.5:c.3219A>G	ENSP00000389119.1:p.Ile1073Met
ENST00000468795.1:c.134A>G
NM_000492.3:c.3309A>G , LRG_663t1:c.3309A>G	NP_000483.3:p.Ile1103Met
XM_011515751.1:c.3399A>G	XP_011514053.1:p.Ile1133Met
XM_011515752.1:c.3399A>G	XP_011514054.1:p.Ile1133Met
XM_011515753.1:c.3066A>G	XP_011514055.1:p.Ile1022Met
XM_011515754.1:c.3066A>G	XP_011514056.1:p.Ile1022Met
NM_000492.4:c.3309A>G MANE Select	NP_000483.3:p.Ile1103Met