Canonical Allele Identifier: CA346665879

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43852353G>C , CM000664.2:g.43852353G>C	GRCh38
NC_000002.11:g.44079492G>C , CM000664.1:g.44079492G>C	GRCh37
NC_000002.10:g.43932996G>C	NCBI36
NG_008884.1:g.18390G>C
NG_008884.2:g.25412G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.562-1G>C MANE Select	NP_071882.1:n.562-1G>C
ENST00000272286.4:c.562-1G>C MANE Select	ENSP00000272286.2:n.562-1G>C
NM_001357321.1:c.562-1G>C	NP_001344250.1:n.562-1G>C
NM_001357321.2:c.562-1G>C	NP_001344250.1:n.562-1G>C
NM_022437.2:c.562-1G>C	NP_071882.1:n.562-1G>C
ENST00000272286.2:c.562-1G>C	ENSP00000272286.2:n.562-1G>C
ENST00000644611.1:c.574-1G>C	ENSP00000495423.1:n.574-1G>C
XM_005264483.2:c.562-1G>C	XP_005264540.1:n.562-1G>C
XM_011533029.1:c.574-1G>C	XP_011531331.1:n.574-1G>C
XM_011533029.2:c.574-1G>C	XP_011531331.1:n.574-1G>C
XM_011533030.1:c.574-1G>C	XP_011531332.1:n.574-1G>C
XM_011533030.2:c.574-1G>C	XP_011531332.1:n.574-1G>C
XM_011533031.1:c.346-1G>C	XP_011531333.1:n.346-1G>C
XR_001738891.1:n.1078-1G>C
XR_939707.1:n.1064-1G>C
XR_939707.2:n.1078-1G>C