Canonical Allele Identifier: CA577211747
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3076092
ClinVar RCV Id: RCV004018409
dbSNP Id: rs1244312586
gnomAD v2: 7-117120001-A-G
gnomAD v3: 7-117479947-A-G
gnomAD v4: 7-117479947-A-G
MyVariant Identifiers: chr7:g.117120001A>G (hg19) chr7:g.117479947A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479947A>G , CM000669.2:g.117479947A>G GRCh38
NC_000007.13:g.117120001A>G , CM000669.1:g.117120001A>G GRCh37
NC_000007.12:g.116907237A>G NCBI36
NG_016465.4:g.19164A>G , LRG_663:g.19164A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+253A>G ENSP00000417012.1:n.-191+253A>G
ENST00000673785.1:c.-406+14116A>G ENSP00000501235.1:n.-406+14116A>G
ENST00000446805.1:c.-191+253A>G ENSP00000417012.1:n.-191+253A>G
ENST00000546407.1:n.166+4139A>G
XM_011515751.1:c.143+602A>G XP_011514053.1:n.143+602A>G
XM_011515752.1:c.143+602A>G XP_011514054.1:n.143+602A>G
XM_011515753.1:c.-191+253A>G XP_011514055.1:n.-191+253A>G
XM_011515754.1:c.-518-201A>G XP_011514056.1:n.-518-201A>G
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