Canonical Allele Identifier: CA2749704991

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839040G>T , CM000664.2:g.43839040G>T	GRCh38
NC_000002.11:g.44066179G>T , CM000664.1:g.44066179G>T	GRCh37
NC_000002.10:g.43919683G>T	NCBI36
NG_008883.1:g.4780C>A
NG_008884.1:g.5077G>T
NG_008884.2:g.12099G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.-14G>T MANE Select	ENSP00000272286.2:n.-14G>T
ENST00000643284.1:n.521-5467G>T
ENST00000644611.1:c.76-5467G>T	ENSP00000495423.1:n.76-5467G>T
ENST00000272286.2:c.-14G>T	ENSP00000272286.2:n.-14G>T
NM_022437.2:c.-14G>T	NP_071882.1:n.-14G>T
XM_005264483.2:c.-14G>T	XP_005264540.1:n.-14G>T
XM_011533029.1:c.76-5467G>T	XP_011531331.1:n.76-5467G>T
XM_011533030.1:c.76-5467G>T	XP_011531332.1:n.76-5467G>T
XM_011533031.1:c.-153-5467G>T	XP_011531333.1:n.-153-5467G>T
XR_939707.1:n.566-5467G>T
NM_001357321.1:c.-14G>T	NP_001344250.1:n.-14G>T
XM_011533029.2:c.76-5467G>T	XP_011531331.1:n.76-5467G>T
XM_011533030.2:c.76-5467G>T	XP_011531332.1:n.76-5467G>T
XR_001738891.1:n.580-5467G>T
XR_939707.2:n.580-5467G>T
NM_022437.3:c.-14G>T MANE Select	NP_071882.1:n.-14G>T
NM_001357321.2:c.-14G>T	NP_001344250.1:n.-14G>T