Canonical Allele Identifier: CA1106300276
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1016316439
gnomAD v3: 7-117479909-C-G
gnomAD v4: 7-117479909-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479909C>G , CM000669.2:g.117479909C>G GRCh38
NC_000007.13:g.117119963C>G , CM000669.1:g.117119963C>G GRCh37
NC_000007.12:g.116907199C>G NCBI36
NG_016465.4:g.19126C>G , LRG_663:g.19126C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+215C>G ENSP00000417012.1:n.-191+215C>G
ENST00000673785.1:c.-406+14078C>G ENSP00000501235.1:n.-406+14078C>G
ENST00000446805.1:c.-191+215C>G ENSP00000417012.1:n.-191+215C>G
ENST00000546407.1:n.166+4101C>G
XM_011515751.1:c.143+564C>G XP_011514053.1:n.143+564C>G
XM_011515752.1:c.143+564C>G XP_011514054.1:n.143+564C>G
XM_011515753.1:c.-191+215C>G XP_011514055.1:n.-191+215C>G
XM_011515754.1:c.-519+215C>G XP_011514056.1:n.-519+215C>G
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