Canonical Allele Identifier: CA426116439

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875349-T-C
• MyVariant Identifiers: chr2:g.44102488T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875349T>C , CM000664.2:g.43875349T>C	GRCh38
NC_000002.11:g.44102488T>C , CM000664.1:g.44102488T>C	GRCh37
NC_000002.10:g.43955992T>C	NCBI36
NG_008884.1:g.41386T>C
NG_008884.2:g.48408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1692T>C MANE Select	ENSP00000272286.2:p.Asn564=
ENST00000272286.2:c.1692T>C	ENSP00000272286.2:p.Asn564=
NM_022437.2:c.1692T>C	NP_071882.1:p.Asn564=
XM_005264483.2:c.1689T>C	XP_005264540.1:p.Asn563=
XM_011533029.1:c.1704T>C	XP_011531331.1:p.Asn568=
XM_011533030.1:c.1701T>C	XP_011531332.1:p.Asn567=
XM_011533031.1:c.1476T>C	XP_011531333.1:p.Asn492=
XR_939707.1:n.2194T>C
NM_001357321.1:c.1689T>C	NP_001344250.1:p.Asn563=
XM_011533029.2:c.1704T>C	XP_011531331.1:p.Asn568=
XM_011533030.2:c.1701T>C	XP_011531332.1:p.Asn567=
XR_001738891.1:n.2208T>C
XR_939707.2:n.2208T>C
NM_022437.3:c.1692T>C MANE Select	NP_071882.1:p.Asn564=
NM_001357321.2:c.1689T>C	NP_001344250.1:p.Asn563=