Canonical Allele Identifier: CA346671512

Gene: ABCG8

Linked Data

• dbSNP Id: rs1188547207
• gnomAD v3: 2-43877882-T-C
• gnomAD v4: 2-43877882-T-C
• MyVariant Identifiers: chr2:g.44105021T>C (hg19) ; chr2:g.43877882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877882T>C , CM000664.2:g.43877882T>C	GRCh38
NC_000002.11:g.44105021T>C , CM000664.1:g.44105021T>C	GRCh37
NC_000002.10:g.43958525T>C	NCBI36
NG_008884.1:g.43919T>C
NG_008884.2:g.50941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1991T>C MANE Select	ENSP00000272286.2:p.Phe664Ser
ENST00000272286.2:c.1991T>C	ENSP00000272286.2:p.Phe664Ser
NM_022437.2:c.1991T>C	NP_071882.1:p.Phe664Ser
XM_005264483.2:c.1988T>C	XP_005264540.1:p.Phe663Ser
XM_011533029.1:c.2003T>C	XP_011531331.1:p.Phe668Ser
XM_011533030.1:c.2000T>C	XP_011531332.1:p.Phe667Ser
XM_011533031.1:c.1775T>C	XP_011531333.1:p.Phe592Ser
XR_939707.1:n.2493T>C
NM_001357321.1:c.1988T>C	NP_001344250.1:p.Phe663Ser
XM_011533029.2:c.2003T>C	XP_011531331.1:p.Phe668Ser
XM_011533030.2:c.2000T>C	XP_011531332.1:p.Phe667Ser
XR_001738891.1:n.2507T>C
XR_939707.2:n.2507T>C
NM_022437.3:c.1991T>C MANE Select	NP_071882.1:p.Phe664Ser
NM_001357321.2:c.1988T>C	NP_001344250.1:p.Phe663Ser