Canonical Allele Identifier: CA4451482

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2043198
• ClinVar RCV Id: RCV002908509
• dbSNP Id: rs770114378
• ExAC: 7:117267578 G / A
• gnomAD v2: 7-117267578-G-A
• gnomAD v3: 7-117627524-G-A
• gnomAD v4: 7-117627524-G-A
• MyVariant Identifiers: chr7:g.117267578G>A (hg19) ; chr7:g.117627524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627524G>A , CM000669.2:g.117627524G>A	GRCh38
NC_000007.13:g.117267578G>A , CM000669.1:g.117267578G>A	GRCh37
NC_000007.12:g.117054814G>A	NCBI36
NG_016465.4:g.166741G>A , LRG_663:g.166741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3471G>A	ENSP00000497673.2:p.Met1157Ile
ENST00000647978.2:c.*3185G>A	ENSP00000497658.1:n.*3185G>A
ENST00000649781.2:c.3288G>A	ENSP00000497203.1:p.Met1096Ile
ENST00000685018.2:c.3471G>A	ENSP00000510194.2:p.Met1157Ile
ENST00000687278.2:c.*124G>A	ENSP00000509593.2:n.*124G>A
ENST00000699585.1:c.3471G>A	ENSP00000514456.1:p.Met1157Ile
ENST00000699598.1:c.3471G>A	ENSP00000514467.1:p.Met1157Ile
ENST00000699599.1:c.3471G>A	ENSP00000514468.1:p.Met1157Ile
ENST00000699600.1:c.*132G>A	ENSP00000514469.1:n.*132G>A
ENST00000699601.1:c.*1846G>A	ENSP00000514470.1:n.*1846G>A
ENST00000699602.1:c.3465G>A	ENSP00000514471.1:p.Met1155Ile
ENST00000699604.1:c.*3295G>A	ENSP00000514472.1:n.*3295G>A
ENST00000699605.1:c.3045G>A	ENSP00000514473.1:p.Met1015Ile
ENST00000685018.1:c.219G>A	ENSP00000510194.1:p.Met73Ile
ENST00000687278.1:c.1258G>A	ENSP00000509593.1:n.1258G>A
ENST00000689011.1:c.53G>A
ENST00000003084.11:c.3471G>A MANE Select	ENSP00000003084.6:p.Met1157Ile
ENST00000647720.1:c.1121G>A
ENST00000648260.1:c.2253G>A	ENSP00000497957.1:p.Met751Ile
ENST00000649406.1:c.3288G>A	ENSP00000497965.1:p.Met1096Ile
ENST00000649781.1:c.3288G>A	ENSP00000497203.1:p.Met1096Ile
ENST00000003084.10:c.3471G>A	ENSP00000003084.6:p.Met1157Ile
ENST00000426809.5:c.3381G>A	ENSP00000389119.1:p.Met1127Ile
ENST00000468795.1:c.296G>A
NM_000492.3:c.3471G>A , LRG_663t1:c.3471G>A	NP_000483.3:p.Met1157Ile
XM_011515751.1:c.3561G>A	XP_011514053.1:p.Met1187Ile
XM_011515752.1:c.3561G>A	XP_011514054.1:p.Met1187Ile
XM_011515753.1:c.3228G>A	XP_011514055.1:p.Met1076Ile
XM_011515754.1:c.3228G>A	XP_011514056.1:p.Met1076Ile
NM_000492.4:c.3471G>A MANE Select	NP_000483.3:p.Met1157Ile