Canonical Allele Identifier: CA425908272

Gene: ABCG8

Linked Data

• gnomAD v3: 2-43877685-T-C
• gnomAD v4: 2-43877685-T-C
• MyVariant Identifiers: chr2:g.44104824T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877685T>C , CM000664.2:g.43877685T>C	GRCh38
NC_000002.11:g.44104824T>C , CM000664.1:g.44104824T>C	GRCh37
NC_000002.10:g.43958328T>C	NCBI36
NG_008884.1:g.43722T>C
NG_008884.2:g.50744T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1881T>C MANE Select	ENSP00000272286.2:p.Asp627=
ENST00000272286.2:c.1881T>C	ENSP00000272286.2:p.Asp627=
NM_022437.2:c.1881T>C	NP_071882.1:p.Asp627=
XM_005264483.2:c.1878T>C	XP_005264540.1:p.Asp626=
XM_011533029.1:c.1893T>C	XP_011531331.1:p.Asp631=
XM_011533030.1:c.1890T>C	XP_011531332.1:p.Asp630=
XM_011533031.1:c.1665T>C	XP_011531333.1:p.Asp555=
XR_939707.1:n.2383T>C
NM_001357321.1:c.1878T>C	NP_001344250.1:p.Asp626=
XM_011533029.2:c.1893T>C	XP_011531331.1:p.Asp631=
XM_011533030.2:c.1890T>C	XP_011531332.1:p.Asp630=
XR_001738891.1:n.2397T>C
XR_939707.2:n.2397T>C
NM_022437.3:c.1881T>C MANE Select	NP_071882.1:p.Asp627=
NM_001357321.2:c.1878T>C	NP_001344250.1:p.Asp626=