Canonical Allele Identifier: CA426116430

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875334-C-T
• MyVariant Identifiers: chr2:g.44102473C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875334C>T , CM000664.2:g.43875334C>T	GRCh38
NC_000002.11:g.44102473C>T , CM000664.1:g.44102473C>T	GRCh37
NC_000002.10:g.43955977C>T	NCBI36
NG_008884.1:g.41371C>T
NG_008884.2:g.48393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1677C>T MANE Select	ENSP00000272286.2:p.Ala559=
ENST00000272286.2:c.1677C>T	ENSP00000272286.2:p.Ala559=
NM_022437.2:c.1677C>T	NP_071882.1:p.Ala559=
XM_005264483.2:c.1674C>T	XP_005264540.1:p.Ala558=
XM_011533029.1:c.1689C>T	XP_011531331.1:p.Ala563=
XM_011533030.1:c.1686C>T	XP_011531332.1:p.Ala562=
XM_011533031.1:c.1461C>T	XP_011531333.1:p.Ala487=
XR_939707.1:n.2179C>T
NM_001357321.1:c.1674C>T	NP_001344250.1:p.Ala558=
XM_011533029.2:c.1689C>T	XP_011531331.1:p.Ala563=
XM_011533030.2:c.1686C>T	XP_011531332.1:p.Ala562=
XR_001738891.1:n.2193C>T
XR_939707.2:n.2193C>T
NM_022437.3:c.1677C>T MANE Select	NP_071882.1:p.Ala559=
NM_001357321.2:c.1674C>T	NP_001344250.1:p.Ala558=