Canonical Allele Identifier: CA1106300279
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797971500
gnomAD v3: 7-117479927-G-A
gnomAD v4: 7-117479927-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479927G>A , CM000669.2:g.117479927G>A GRCh38
NC_000007.13:g.117119981G>A , CM000669.1:g.117119981G>A GRCh37
NC_000007.12:g.116907217G>A NCBI36
NG_016465.4:g.19144G>A , LRG_663:g.19144G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+233G>A ENSP00000417012.1:n.-191+233G>A
ENST00000673785.1:c.-406+14096G>A ENSP00000501235.1:n.-406+14096G>A
ENST00000446805.1:c.-191+233G>A ENSP00000417012.1:n.-191+233G>A
ENST00000546407.1:n.166+4119G>A
XM_011515751.1:c.143+582G>A XP_011514053.1:n.143+582G>A
XM_011515752.1:c.143+582G>A XP_011514054.1:n.143+582G>A
XM_011515753.1:c.-191+233G>A XP_011514055.1:n.-191+233G>A
XM_011515754.1:c.-518-221G>A XP_011514056.1:n.-518-221G>A
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