Canonical Allele Identifier: CA2596914221

Gene: ABCG8

Linked Data

• dbSNP Id: rs2104901924
• gnomAD v3: 2-43839119-G-T
• gnomAD v4: 2-43839119-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839119G>T , CM000664.2:g.43839119G>T	GRCh38
NC_000002.11:g.44066258G>T , CM000664.1:g.44066258G>T	GRCh37
NC_000002.10:g.43919762G>T	NCBI36
NG_008883.1:g.4701C>A
NG_008884.1:g.5156G>T
NG_008884.2:g.12178G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+3G>T MANE Select	ENSP00000272286.2:n.63+3G>T
ENST00000643284.1:n.521-5388G>T
ENST00000644611.1:c.76-5388G>T	ENSP00000495423.1:n.76-5388G>T
ENST00000272286.2:c.63+3G>T	ENSP00000272286.2:n.63+3G>T
NM_022437.2:c.63+3G>T	NP_071882.1:n.63+3G>T
XM_005264483.2:c.63+3G>T	XP_005264540.1:n.63+3G>T
XM_011533029.1:c.76-5388G>T	XP_011531331.1:n.76-5388G>T
XM_011533030.1:c.76-5388G>T	XP_011531332.1:n.76-5388G>T
XM_011533031.1:c.-153-5388G>T	XP_011531333.1:n.-153-5388G>T
XR_939707.1:n.566-5388G>T
NM_001357321.1:c.63+3G>T	NP_001344250.1:n.63+3G>T
XM_011533029.2:c.76-5388G>T	XP_011531331.1:n.76-5388G>T
XM_011533030.2:c.76-5388G>T	XP_011531332.1:n.76-5388G>T
XR_001738891.1:n.580-5388G>T
XR_939707.2:n.580-5388G>T
NM_022437.3:c.63+3G>T MANE Select	NP_071882.1:n.63+3G>T
NM_001357321.2:c.63+3G>T	NP_001344250.1:n.63+3G>T