Canonical Allele Identifier: CA4451516

Gene: CFTR

Linked Data

• dbSNP Id: rs139322772
• ExAC: 7:117267794 C / A
• gnomAD v2: 7-117267794-C-A
• gnomAD v3: 7-117627740-C-A
• gnomAD v4: 7-117627740-C-A
• MyVariant Identifiers: chr7:g.117267794C>A (hg19) ; chr7:g.117627740C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627740C>A , CM000669.2:g.117627740C>A	GRCh38
NC_000007.13:g.117267794C>A , CM000669.1:g.117267794C>A	GRCh37
NC_000007.12:g.117055030C>A	NCBI36
NG_016465.4:g.166957C>A , LRG_663:g.166957C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+170C>A	ENSP00000497673.2:n.3517+170C>A
ENST00000647978.2:c.*3401C>A	ENSP00000497658.1:n.*3401C>A
ENST00000649781.2:c.3504C>A	ENSP00000497203.1:p.Asn1168Lys
ENST00000685018.2:c.3687C>A	ENSP00000510194.2:p.Asn1229Lys
ENST00000687278.2:c.*340C>A	ENSP00000509593.2:n.*340C>A
ENST00000699585.1:c.3517+170C>A	ENSP00000514456.1:n.3517+170C>A
ENST00000699598.1:c.3687C>A	ENSP00000514467.1:p.Asn1229Lys
ENST00000699599.1:c.3687C>A	ENSP00000514468.1:p.Asn1229Lys
ENST00000699600.1:c.*348C>A	ENSP00000514469.1:n.*348C>A
ENST00000699601.1:c.*2062C>A	ENSP00000514470.1:n.*2062C>A
ENST00000699602.1:c.3681C>A	ENSP00000514471.1:p.Asn1227Lys
ENST00000699604.1:c.*3511C>A	ENSP00000514472.1:n.*3511C>A
ENST00000699605.1:c.3261C>A	ENSP00000514473.1:p.Asn1087Lys
ENST00000685018.1:c.435C>A	ENSP00000510194.1:p.Asn145Lys
ENST00000687278.1:c.1474C>A	ENSP00000509593.1:n.1474C>A
ENST00000689011.1:c.269C>A
ENST00000003084.11:c.3687C>A MANE Select	ENSP00000003084.6:p.Asn1229Lys
ENST00000647720.1:c.1167+170C>A
ENST00000648260.1:c.2469C>A	ENSP00000497957.1:p.Asn823Lys
ENST00000649406.1:c.3504C>A	ENSP00000497965.1:p.Asn1168Lys
ENST00000649781.1:c.3504C>A	ENSP00000497203.1:p.Asn1168Lys
ENST00000003084.10:c.3687C>A	ENSP00000003084.6:p.Asn1229Lys
ENST00000426809.5:c.3597C>A	ENSP00000389119.1:p.Asn1199Lys
ENST00000468795.1:c.512C>A
NM_000492.3:c.3687C>A , LRG_663t1:c.3687C>A	NP_000483.3:p.Asn1229Lys
XM_011515751.1:c.3777C>A	XP_011514053.1:p.Asn1259Lys
XM_011515752.1:c.3777C>A	XP_011514054.1:p.Asn1259Lys
XM_011515753.1:c.3444C>A	XP_011514055.1:p.Asn1148Lys
XM_011515754.1:c.3444C>A	XP_011514056.1:p.Asn1148Lys
NM_000492.4:c.3687C>A MANE Select	NP_000483.3:p.Asn1229Lys