Canonical Allele Identifier: CA146704

Gene: CFTR

Linked Data

• ClinVar Variation Id: 93156
• ClinVar RCV Id: RCV001705727 ; RCV002255281
• dbSNP Id: rs1800135
• ExAC: 7:117306991 C / T
• gnomAD v2: 7-117306991-C-T
• gnomAD v3: 7-117666937-C-T
• gnomAD v4: 7-117666937-C-T
• MyVariant Identifiers: chr7:g.117306991C>T (hg19) ; chr7:g.117666937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666937C>T , CM000669.2:g.117666937C>T	GRCh38
NC_000007.13:g.117306991C>T , CM000669.1:g.117306991C>T	GRCh37
NC_000007.12:g.117094227C>T	NCBI36
NG_016465.4:g.206154C>T , LRG_663:g.206154C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*481C>T	ENSP00000497673.2:n.*481C>T
ENST00000647978.2:c.*3986C>T	ENSP00000497658.1:n.*3986C>T
ENST00000649781.2:c.4089C>T	ENSP00000497203.1:p.Tyr1363=
ENST00000685018.2:c.*485C>T	ENSP00000510194.2:n.*485C>T
ENST00000687278.2:c.*896-665C>T	ENSP00000509593.2:n.*896-665C>T
ENST00000699585.1:c.*741C>T	ENSP00000514456.1:n.*741C>T
ENST00000699598.1:c.4265C>T	ENSP00000514467.1:p.Thr1422Met
ENST00000699599.1:c.*485C>T	ENSP00000514468.1:n.*485C>T
ENST00000699600.1:c.*904-665C>T	ENSP00000514469.1:n.*904-665C>T
ENST00000699601.1:c.*2647C>T	ENSP00000514470.1:n.*2647C>T
ENST00000699602.1:c.4266C>T	ENSP00000514471.1:p.Tyr1422=
ENST00000699604.1:c.*4096C>T	ENSP00000514472.1:n.*4096C>T
ENST00000699605.1:c.3846C>T	ENSP00000514473.1:p.Tyr1282=
ENST00000699606.1:n.3783C>T
ENST00000685018.1:c.1136C>T	ENSP00000510194.1:n.1136C>T
ENST00000687278.1:c.2030-665C>T	ENSP00000509593.1:n.2030-665C>T
ENST00000689011.1:c.1114C>T
ENST00000003084.11:c.4272C>T MANE Select	ENSP00000003084.6:p.Tyr1424=
ENST00000647720.1:c.1722C>T
ENST00000649781.1:c.4089C>T	ENSP00000497203.1:p.Tyr1363=
ENST00000003084.10:c.4272C>T	ENSP00000003084.6:p.Tyr1424=
ENST00000426809.5:c.4182C>T	ENSP00000389119.1:p.Tyr1394=
ENST00000600166.1:c.368+1373C>T
NM_000492.3:c.4272C>T , LRG_663t1:c.4272C>T	NP_000483.3:p.Tyr1424=
XM_011515751.1:c.4362C>T	XP_011514053.1:p.Tyr1454=
XM_011515753.1:c.4029C>T	XP_011514055.1:p.Tyr1343=
XM_011515754.1:c.4029C>T	XP_011514056.1:p.Tyr1343=
NM_000492.4:c.4272C>T MANE Select	NP_000483.3:p.Tyr1424=