Canonical Allele Identifier: CA346671277

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104951T>C (hg19) ; chr2:g.43877812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877812T>C , CM000664.2:g.43877812T>C	GRCh38
NC_000002.11:g.44104951T>C , CM000664.1:g.44104951T>C	GRCh37
NC_000002.10:g.43958455T>C	NCBI36
NG_008884.1:g.43849T>C
NG_008884.2:g.50871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1921T>C MANE Select	ENSP00000272286.2:p.Tyr641His
ENST00000272286.2:c.1921T>C	ENSP00000272286.2:p.Tyr641His
NM_022437.2:c.1921T>C	NP_071882.1:p.Tyr641His
XM_005264483.2:c.1918T>C	XP_005264540.1:p.Tyr640His
XM_011533029.1:c.1933T>C	XP_011531331.1:p.Tyr645His
XM_011533030.1:c.1930T>C	XP_011531332.1:p.Tyr644His
XM_011533031.1:c.1705T>C	XP_011531333.1:p.Tyr569His
XR_939707.1:n.2423T>C
NM_001357321.1:c.1918T>C	NP_001344250.1:p.Tyr640His
XM_011533029.2:c.1933T>C	XP_011531331.1:p.Tyr645His
XM_011533030.2:c.1930T>C	XP_011531332.1:p.Tyr644His
XR_001738891.1:n.2437T>C
XR_939707.2:n.2437T>C
NM_022437.3:c.1921T>C MANE Select	NP_071882.1:p.Tyr641His
NM_001357321.2:c.1918T>C	NP_001344250.1:p.Tyr640His