Canonical Allele Identifier: CA327072

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53668
• ClinVar RCV Id: RCV000402359 ; RCV000671075 ; RCV001280927 ; RCV001826660
• dbSNP Id: rs397508511
• ExAC: 7:117251664 A / G
• gnomAD v2: 7-117251664-A-G
• gnomAD v3: 7-117611610-A-G
• gnomAD v4: 7-117611610-A-G
• MyVariant Identifiers: chr7:g.117251664A>G (hg19) ; chr7:g.117611610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611610A>G , CM000669.2:g.117611610A>G	GRCh38
NC_000007.13:g.117251664A>G , CM000669.1:g.117251664A>G	GRCh37
NC_000007.12:g.117038900A>G	NCBI36
NG_016465.4:g.150827A>G , LRG_663:g.150827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3169A>G	ENSP00000497673.2:p.Thr1057Ala
ENST00000647978.2:c.*2883A>G	ENSP00000497658.1:n.*2883A>G
ENST00000649781.2:c.2986A>G	ENSP00000497203.1:p.Thr996Ala
ENST00000685018.2:c.3169A>G	ENSP00000510194.2:p.Thr1057Ala
ENST00000687278.2:c.3169A>G	ENSP00000509593.2:p.Thr1057Ala
ENST00000699585.1:c.3169A>G	ENSP00000514456.1:p.Thr1057Ala
ENST00000699598.1:c.3169A>G	ENSP00000514467.1:p.Thr1057Ala
ENST00000699599.1:c.3169A>G	ENSP00000514468.1:p.Thr1057Ala
ENST00000699600.1:c.3169A>G	ENSP00000514469.1:p.Thr1057Ala
ENST00000699601.1:c.*1469A>G	ENSP00000514470.1:n.*1469A>G
ENST00000699602.1:c.3169A>G	ENSP00000514471.1:p.Thr1057Ala
ENST00000699604.1:c.*2993A>G	ENSP00000514472.1:n.*2993A>G
ENST00000699605.1:c.2743A>G	ENSP00000514473.1:p.Thr915Ala
ENST00000687278.1:c.760A>G	ENSP00000509593.1:p.Thr254Ala
ENST00000003084.11:c.3169A>G MANE Select	ENSP00000003084.6:p.Thr1057Ala
ENST00000647720.1:c.819A>G
ENST00000648260.1:c.1951A>G	ENSP00000497957.1:p.Thr651Ala
ENST00000649406.1:c.2986A>G	ENSP00000497965.1:p.Thr996Ala
ENST00000649781.1:c.2986A>G	ENSP00000497203.1:p.Thr996Ala
ENST00000003084.10:c.3169A>G	ENSP00000003084.6:p.Thr1057Ala
ENST00000426809.5:c.3079A>G	ENSP00000389119.1:p.Thr1027Ala
NM_000492.3:c.3169A>G , LRG_663t1:c.3169A>G	NP_000483.3:p.Thr1057Ala
XM_011515751.1:c.3259A>G	XP_011514053.1:p.Thr1087Ala
XM_011515752.1:c.3259A>G	XP_011514054.1:p.Thr1087Ala
XM_011515753.1:c.2926A>G	XP_011514055.1:p.Thr976Ala
XM_011515754.1:c.2926A>G	XP_011514056.1:p.Thr976Ala
NM_000492.4:c.3169A>G MANE Select	NP_000483.3:p.Thr1057Ala