Canonical Allele Identifier: CA327202

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267576_117267824del (hg19) ; chr7:g.117627522_117627770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627522_117627770del , CM000669.2:g.117627522_117627770del	GRCh38
NC_000007.13:g.117267576_117267824del , CM000669.1:g.117267576_117267824del	GRCh37
NC_000007.12:g.117054812_117055060del	NCBI36
NG_016465.4:g.166739_166987del , LRG_663:g.166739_166987del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3469_3517+200del
ENST00000647978.2:c.*3183_*3431del
ENST00000649781.2:c.3286_3534del
ENST00000685018.2:c.3469_3717del
ENST00000687278.2:c.*122_*370del
ENST00000699585.1:c.3469_3517+200del
ENST00000699598.1:c.3469_3717del
ENST00000699599.1:c.3469_3717del
ENST00000699600.1:c.*130_*378del
ENST00000699601.1:c.*1844_*2092del
ENST00000699602.1:c.3463_3711del
ENST00000699604.1:c.*3293_*3541del
ENST00000699605.1:c.3043_3291del
ENST00000685018.1:c.217_465del
ENST00000687278.1:c.1256_1504del
ENST00000689011.1:c.51_299del
ENST00000003084.11:c.3469_3717del
ENST00000647720.1:c.1119_1167+200del
ENST00000648260.1:c.2251_2499del
ENST00000649406.1:c.3286_3534del
ENST00000649781.1:c.3286_3534del
ENST00000003084.10:c.3469_3717del
ENST00000426809.5:c.3379_3627del
ENST00000468795.1:c.294_542del
NM_000492.3:c.3469_3717del , LRG_663t1:c.3469_3717del
XM_011515751.1:c.3559_3807del
XM_011515752.1:c.3559_3807del
XM_011515753.1:c.3226_3474del
XM_011515754.1:c.3226_3474del
NM_000492.4:c.3469_3717del