Canonical Allele Identifier: CA368983563

Gene: CFTR

Linked Data

• ClinVar Variation Id: 495945
• ClinVar RCV Id: RCV000587172 ; RCV001272368
• dbSNP Id: rs1330281974
• gnomAD v2: 7-117305560-G-T
• gnomAD v3: 7-117665506-G-T
• gnomAD v4: 7-117665506-G-T
• MyVariant Identifiers: chr7:g.117305560G>T (hg19) ; chr7:g.117665506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665506G>T , CM000669.2:g.117665506G>T	GRCh38
NC_000007.13:g.117305560G>T , CM000669.1:g.117305560G>T	GRCh37
NC_000007.12:g.117092796G>T	NCBI36
NG_016465.4:g.204723G>T , LRG_663:g.204723G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*393G>T	ENSP00000497673.2:n.*393G>T
ENST00000647978.2:c.*3898G>T	ENSP00000497658.1:n.*3898G>T
ENST00000649781.2:c.4001G>T	ENSP00000497203.1:p.Cys1334Phe
ENST00000685018.2:c.*397G>T	ENSP00000510194.2:n.*397G>T
ENST00000687278.2:c.*837G>T	ENSP00000509593.2:n.*837G>T
ENST00000699585.1:c.*393G>T	ENSP00000514456.1:n.*393G>T
ENST00000699598.1:c.4184G>T	ENSP00000514467.1:p.Cys1395Phe
ENST00000699599.1:c.*397G>T	ENSP00000514468.1:n.*397G>T
ENST00000699600.1:c.*845G>T	ENSP00000514469.1:n.*845G>T
ENST00000699601.1:c.*2559G>T	ENSP00000514470.1:n.*2559G>T
ENST00000699602.1:c.4178G>T	ENSP00000514471.1:p.Cys1393Phe
ENST00000699604.1:c.*4008G>T	ENSP00000514472.1:n.*4008G>T
ENST00000699605.1:c.3758G>T	ENSP00000514473.1:p.Cys1253Phe
ENST00000699606.1:n.2352G>T
ENST00000685018.1:c.1048G>T	ENSP00000510194.1:n.1048G>T
ENST00000687278.1:c.1971G>T	ENSP00000509593.1:n.1971G>T
ENST00000689011.1:c.766G>T
ENST00000003084.11:c.4184G>T MANE Select	ENSP00000003084.6:p.Cys1395Phe
ENST00000647720.1:c.1634G>T
ENST00000649781.1:c.4001G>T	ENSP00000497203.1:p.Cys1334Phe
ENST00000003084.10:c.4184G>T	ENSP00000003084.6:p.Cys1395Phe
ENST00000426809.5:c.4094G>T	ENSP00000389119.1:p.Cys1365Phe
ENST00000600166.1:c.310G>T
NM_000492.3:c.4184G>T , LRG_663t1:c.4184G>T	NP_000483.3:p.Cys1395Phe
XM_011515751.1:c.4274G>T	XP_011514053.1:p.Cys1425Phe
XM_011515752.1:c.4274G>T	XP_011514054.1:p.Cys1425Phe
XM_011515753.1:c.3941G>T	XP_011514055.1:p.Cys1314Phe
XM_011515754.1:c.3941G>T	XP_011514056.1:p.Cys1314Phe
NM_000492.4:c.4184G>T MANE Select	NP_000483.3:p.Cys1395Phe