Canonical Allele Identifier: CA346670827

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670002647
• gnomAD v4: 2-43877601-T-G
• MyVariant Identifiers: chr2:g.44104740T>G (hg19) ; chr2:g.43877601T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877601T>G , CM000664.2:g.43877601T>G	GRCh38
NC_000002.11:g.44104740T>G , CM000664.1:g.44104740T>G	GRCh37
NC_000002.10:g.43958244T>G	NCBI36
NG_008884.1:g.43638T>G
NG_008884.2:g.50660T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1797T>G MANE Select	ENSP00000272286.2:p.Cys599Trp
ENST00000272286.2:c.1797T>G	ENSP00000272286.2:p.Cys599Trp
NM_022437.2:c.1797T>G	NP_071882.1:p.Cys599Trp
XM_005264483.2:c.1794T>G	XP_005264540.1:p.Cys598Trp
XM_011533029.1:c.1809T>G	XP_011531331.1:p.Cys603Trp
XM_011533030.1:c.1806T>G	XP_011531332.1:p.Cys602Trp
XM_011533031.1:c.1581T>G	XP_011531333.1:p.Cys527Trp
XR_939707.1:n.2299T>G
NM_001357321.1:c.1794T>G	NP_001344250.1:p.Cys598Trp
XM_011533029.2:c.1809T>G	XP_011531331.1:p.Cys603Trp
XM_011533030.2:c.1806T>G	XP_011531332.1:p.Cys602Trp
XR_001738891.1:n.2313T>G
XR_939707.2:n.2313T>G
NM_022437.3:c.1797T>G MANE Select	NP_071882.1:p.Cys599Trp
NM_001357321.2:c.1794T>G	NP_001344250.1:p.Cys598Trp