Canonical Allele Identifier: CA1637450

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43874411C>T , CM000664.2:g.43874411C>T	GRCh38
NC_000002.11:g.44101550C>T , CM000664.1:g.44101550C>T	GRCh37
NC_000002.10:g.43955054C>T	NCBI36
NG_008884.1:g.40448C>T
NG_008884.2:g.47470C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1416C>T MANE Select	NP_071882.1:p.Tyr472=
ENST00000272286.4:c.1416C>T MANE Select	ENSP00000272286.2:p.Tyr472=
NM_001357321.1:c.1413C>T	NP_001344250.1:p.Tyr471=
NM_001357321.2:c.1413C>T	NP_001344250.1:p.Tyr471=
NM_022437.2:c.1416C>T	NP_071882.1:p.Tyr472=
ENST00000272286.2:c.1416C>T	ENSP00000272286.2:p.Tyr472=
XM_005264483.2:c.1413C>T	XP_005264540.1:p.Tyr471=
XM_011533029.1:c.1428C>T	XP_011531331.1:p.Tyr476=
XM_011533029.2:c.1428C>T	XP_011531331.1:p.Tyr476=
XM_011533030.1:c.1425C>T	XP_011531332.1:p.Tyr475=
XM_011533030.2:c.1425C>T	XP_011531332.1:p.Tyr475=
XM_011533031.1:c.1200C>T	XP_011531333.1:p.Tyr400=
XR_001738891.1:n.1932C>T
XR_939707.1:n.1918C>T
XR_939707.2:n.1932C>T