Canonical Allele Identifier: CA164948039
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs369192369
MyVariant Identifiers: chr7:g.117118894A>T (hg19) chr7:g.117478840A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478840A>T , CM000669.2:g.117478840A>T GRCh38
NC_000007.13:g.117118894A>T , CM000669.1:g.117118894A>T GRCh37
NC_000007.12:g.116906130A>T NCBI36
NG_016465.4:g.18057A>T , LRG_663:g.18057A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-404A>T ENSP00000417012.1:n.-525-404A>T
ENST00000673785.1:c.-406+13009A>T ENSP00000501235.1:n.-406+13009A>T
ENST00000546407.1:n.166+3032A>T
XM_011515751.1:c.42-404A>T XP_011514053.1:n.42-404A>T
XM_011515752.1:c.42-404A>T XP_011514054.1:n.42-404A>T
XM_011515754.1:c.-1257A>T XP_011514056.1:n.-1257A>T
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