Canonical Allele Identifier: CA1637051

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43851836C>T , CM000664.2:g.43851836C>T	GRCh38
NC_000002.11:g.44078975C>T , CM000664.1:g.44078975C>T	GRCh37
NC_000002.10:g.43932479C>T	NCBI36
NG_008884.1:g.17873C>T
NG_008884.2:g.24895C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.561+14C>T MANE Select	NP_071882.1:n.561+14C>T
ENST00000272286.4:c.561+14C>T MANE Select	ENSP00000272286.2:n.561+14C>T
NM_001357321.1:c.561+14C>T	NP_001344250.1:n.561+14C>T
NM_001357321.2:c.561+14C>T	NP_001344250.1:n.561+14C>T
NM_022437.2:c.561+14C>T	NP_071882.1:n.561+14C>T
ENST00000272286.2:c.561+14C>T	ENSP00000272286.2:n.561+14C>T
ENST00000644611.1:c.573+14C>T	ENSP00000495423.1:n.573+14C>T
XM_005264483.2:c.561+14C>T	XP_005264540.1:n.561+14C>T
XM_011533029.1:c.573+14C>T	XP_011531331.1:n.573+14C>T
XM_011533029.2:c.573+14C>T	XP_011531331.1:n.573+14C>T
XM_011533030.1:c.573+14C>T	XP_011531332.1:n.573+14C>T
XM_011533030.2:c.573+14C>T	XP_011531332.1:n.573+14C>T
XM_011533031.1:c.345+14C>T	XP_011531333.1:n.345+14C>T
XR_001738891.1:n.1077+14C>T
XR_939707.1:n.1063+14C>T
XR_939707.2:n.1077+14C>T