Canonical Allele Identifier: CA1637585

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 596119
• ClinVar RCV Id: RCV000731839 ; RCV002245631 ; RCV002507299 ; RCV003165977 ; RCV003965531
• dbSNP Id: rs548098742
• ExAC: 2:44102463 T / C
• gnomAD v2: 2-44102463-T-C
• gnomAD v3: 2-43875324-T-C
• gnomAD v4: 2-43875324-T-C
• MyVariant Identifiers: chr2:g.44102463T>C (hg19) ; chr2:g.43875324T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875324T>C , CM000664.2:g.43875324T>C	GRCh38
NC_000002.11:g.44102463T>C , CM000664.1:g.44102463T>C	GRCh37
NC_000002.10:g.43955967T>C	NCBI36
NG_008884.1:g.41361T>C
NG_008884.2:g.48383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1667T>C MANE Select	ENSP00000272286.2:p.Phe556Ser
ENST00000272286.2:c.1667T>C	ENSP00000272286.2:p.Phe556Ser
NM_022437.2:c.1667T>C	NP_071882.1:p.Phe556Ser
XM_005264483.2:c.1664T>C	XP_005264540.1:p.Phe555Ser
XM_011533029.1:c.1679T>C	XP_011531331.1:p.Phe560Ser
XM_011533030.1:c.1676T>C	XP_011531332.1:p.Phe559Ser
XM_011533031.1:c.1451T>C	XP_011531333.1:p.Phe484Ser
XR_939707.1:n.2169T>C
NM_001357321.1:c.1664T>C	NP_001344250.1:p.Phe555Ser
XM_011533029.2:c.1679T>C	XP_011531331.1:p.Phe560Ser
XM_011533030.2:c.1676T>C	XP_011531332.1:p.Phe559Ser
XR_001738891.1:n.2183T>C
XR_939707.2:n.2183T>C
NM_022437.3:c.1667T>C MANE Select	NP_071882.1:p.Phe556Ser
NM_001357321.2:c.1664T>C	NP_001344250.1:p.Phe555Ser