Canonical Allele Identifier: CA2603588220
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs2116601545
gnomAD v3: 7-117478937-C-T
gnomAD v4: 7-117478937-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478937C>T , CM000669.2:g.117478937C>T GRCh38
NC_000007.13:g.117118991C>T , CM000669.1:g.117118991C>T GRCh37
NC_000007.12:g.116906227C>T NCBI36
NG_016465.4:g.18154C>T , LRG_663:g.18154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-307C>T ENSP00000417012.1:n.-525-307C>T
ENST00000673785.1:c.-406+13106C>T ENSP00000501235.1:n.-406+13106C>T
ENST00000546407.1:n.166+3129C>T
XM_011515751.1:c.42-307C>T XP_011514053.1:n.42-307C>T
XM_011515752.1:c.42-307C>T XP_011514054.1:n.42-307C>T
XM_011515754.1:c.-1160C>T XP_011514056.1:n.-1160C>T
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