Canonical Allele Identifier: CA326357

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53158
• ClinVar RCV Id: RCV000046190
• dbSNP Id: rs397508136
• MyVariant Identifiers: chr7:g.117120140_117120162del (hg19) ; chr7:g.117120136_117120158del (hg19) ; chr7:g.117480086_117480108del (hg38) ; chr7:g.117480082_117480104del (hg38)
• PubMed: PMID:17331079 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480082_117480104del , CM000669.2:g.117480082_117480104del	GRCh38
NC_000007.13:g.117120136_117120158del , CM000669.1:g.117120136_117120158del	GRCh37
NC_000007.12:g.116907372_116907394del	NCBI36
NG_016465.4:g.19299_19321del , LRG_663:g.19299_19321del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.1:c.-191+388_-191+410del	ENSP00000417012.1:p.=
XM_011515751.1:c.143+737_143+759del	XP_011514053.1:p.=
XM_011515752.1:c.143+737_143+759del	XP_011514054.1:p.=
XM_011515753.1:c.-191+388_-191+410del	XP_011514055.1:p.=
XM_011515754.1:c.-518-66_-518-44del	XP_011514056.1:p.=