Canonical Allele Identifier: CA368975600

Gene: CFTR

Linked Data

• dbSNP Id: rs1179594445
• gnomAD v2: 7-117282637-T-C
• gnomAD v4: 7-117642583-T-C
• MyVariant Identifiers: chr7:g.117282637T>C (hg19) ; chr7:g.117642583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642583T>C , CM000669.2:g.117642583T>C	GRCh38
NC_000007.13:g.117282637T>C , CM000669.1:g.117282637T>C	GRCh37
NC_000007.12:g.117069873T>C	NCBI36
NG_016465.4:g.181800T>C , LRG_663:g.181800T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*72T>C	ENSP00000497673.2:n.*72T>C
ENST00000647978.2:c.*3577T>C	ENSP00000497658.1:n.*3577T>C
ENST00000649781.2:c.3680T>C	ENSP00000497203.1:p.Val1227Ala
ENST00000685018.2:c.3863T>C	ENSP00000510194.2:p.Val1288Ala
ENST00000687278.2:c.*516T>C	ENSP00000509593.2:n.*516T>C
ENST00000699585.1:c.*72T>C	ENSP00000514456.1:n.*72T>C
ENST00000699598.1:c.3863T>C	ENSP00000514467.1:p.Val1288Ala
ENST00000699599.1:c.3863T>C	ENSP00000514468.1:p.Val1288Ala
ENST00000699600.1:c.*524T>C	ENSP00000514469.1:n.*524T>C
ENST00000699601.1:c.*2238T>C	ENSP00000514470.1:n.*2238T>C
ENST00000699602.1:c.3857T>C	ENSP00000514471.1:p.Val1286Ala
ENST00000699604.1:c.*3687T>C	ENSP00000514472.1:n.*3687T>C
ENST00000699605.1:c.3437T>C	ENSP00000514473.1:p.Val1146Ala
ENST00000685018.1:c.611T>C	ENSP00000510194.1:p.Val204Ala
ENST00000687278.1:c.1650T>C	ENSP00000509593.1:n.1650T>C
ENST00000689011.1:c.445T>C
ENST00000003084.11:c.3863T>C MANE Select	ENSP00000003084.6:p.Val1288Ala
ENST00000647720.1:c.1313T>C
ENST00000649781.1:c.3680T>C	ENSP00000497203.1:p.Val1227Ala
ENST00000003084.10:c.3863T>C	ENSP00000003084.6:p.Val1288Ala
ENST00000426809.5:c.3773T>C	ENSP00000389119.1:p.Val1258Ala
NM_000492.3:c.3863T>C , LRG_663t1:c.3863T>C	NP_000483.3:p.Val1288Ala
XM_011515751.1:c.3953T>C	XP_011514053.1:p.Val1318Ala
XM_011515752.1:c.3953T>C	XP_011514054.1:p.Val1318Ala
XM_011515753.1:c.3620T>C	XP_011514055.1:p.Val1207Ala
XM_011515754.1:c.3620T>C	XP_011514056.1:p.Val1207Ala
NM_000492.4:c.3863T>C MANE Select	NP_000483.3:p.Val1288Ala