Canonical Allele Identifier: CA2493965082

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877704C= , CM000664.2:g.43877704C=	GRCh38
NC_000002.11:g.44104843C= , CM000664.1:g.44104843C=	GRCh37
NC_000002.10:g.43958347C=	NCBI36
NG_008884.1:g.43741C=
NG_008884.2:g.50763C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1884+16C= MANE Select	ENSP00000272286.2:n.1884+16C=
ENST00000272286.2:c.1884+16C=	ENSP00000272286.2:n.1884+16C=
NM_022437.2:c.1884+16C=	NP_071882.1:n.1884+16C=
XM_005264483.2:c.1881+16C=	XP_005264540.1:n.1881+16C=
XM_011533029.1:c.1896+16C=	XP_011531331.1:n.1896+16C=
XM_011533030.1:c.1893+16C=	XP_011531332.1:n.1893+16C=
XM_011533031.1:c.1668+16C=	XP_011531333.1:n.1668+16C=
XR_939707.1:n.2386+16C=
NM_001357321.1:c.1881+16C=	NP_001344250.1:n.1881+16C=
XM_011533029.2:c.1896+16C=	XP_011531331.1:n.1896+16C=
XM_011533030.2:c.1893+16C=	XP_011531332.1:n.1893+16C=
XR_001738891.1:n.2400+16C=
XR_939707.2:n.2400+16C=
NM_022437.3:c.1884+16C= MANE Select	NP_071882.1:n.1884+16C=
NM_001357321.2:c.1881+16C=	NP_001344250.1:n.1881+16C=