Canonical Allele Identifier: CA346663597

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44073397A>C (hg19) ; chr2:g.43846258A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846258A>C , CM000664.2:g.43846258A>C	GRCh38
NC_000002.11:g.44073397A>C , CM000664.1:g.44073397A>C	GRCh37
NC_000002.10:g.43926901A>C	NCBI36
NG_008884.1:g.12295A>C
NG_008884.2:g.19317A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.269A>C MANE Select	ENSP00000272286.2:p.Asn90Thr
ENST00000643284.1:n.726A>C
ENST00000644611.1:c.281A>C	ENSP00000495423.1:p.Asn94Thr
ENST00000272286.2:c.269A>C	ENSP00000272286.2:p.Asn90Thr
NM_022437.2:c.269A>C	NP_071882.1:p.Asn90Thr
XM_005264483.2:c.269A>C	XP_005264540.1:p.Asn90Thr
XM_011533029.1:c.281A>C	XP_011531331.1:p.Asn94Thr
XM_011533030.1:c.281A>C	XP_011531332.1:p.Asn94Thr
XM_011533031.1:c.53A>C	XP_011531333.1:p.Asn18Thr
XR_939707.1:n.771A>C
NM_001357321.1:c.269A>C	NP_001344250.1:p.Asn90Thr
XM_011533029.2:c.281A>C	XP_011531331.1:p.Asn94Thr
XM_011533030.2:c.281A>C	XP_011531332.1:p.Asn94Thr
XR_001738891.1:n.785A>C
XR_939707.2:n.785A>C
NM_022437.3:c.269A>C MANE Select	NP_071882.1:p.Asn90Thr
NM_001357321.2:c.269A>C	NP_001344250.1:p.Asn90Thr