Canonical Allele Identifier: CA1637679

Gene: ABCG8

Linked Data

• dbSNP Id: rs778754458
• ExAC: 2:44104783 A / G
• gnomAD v2: 2-44104783-A-G
• MyVariant Identifiers: chr2:g.44104783A>G (hg19) ; chr2:g.43877644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877644A>G , CM000664.2:g.43877644A>G	GRCh38
NC_000002.11:g.44104783A>G , CM000664.1:g.44104783A>G	GRCh37
NC_000002.10:g.43958287A>G	NCBI36
NG_008884.1:g.43681A>G
NG_008884.2:g.50703A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1840A>G MANE Select	ENSP00000272286.2:p.Lys614Glu
ENST00000272286.2:c.1840A>G	ENSP00000272286.2:p.Lys614Glu
NM_022437.2:c.1840A>G	NP_071882.1:p.Lys614Glu
XM_005264483.2:c.1837A>G	XP_005264540.1:p.Lys613Glu
XM_011533029.1:c.1852A>G	XP_011531331.1:p.Lys618Glu
XM_011533030.1:c.1849A>G	XP_011531332.1:p.Lys617Glu
XM_011533031.1:c.1624A>G	XP_011531333.1:p.Lys542Glu
XR_939707.1:n.2342A>G
NM_001357321.1:c.1837A>G	NP_001344250.1:p.Lys613Glu
XM_011533029.2:c.1852A>G	XP_011531331.1:p.Lys618Glu
XM_011533030.2:c.1849A>G	XP_011531332.1:p.Lys617Glu
XR_001738891.1:n.2356A>G
XR_939707.2:n.2356A>G
NM_022437.3:c.1840A>G MANE Select	NP_071882.1:p.Lys614Glu
NM_001357321.2:c.1837A>G	NP_001344250.1:p.Lys613Glu