Canonical Allele Identifier: CA127405

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 17779
• ClinVar RCV Id: RCV000019357
• dbSNP Id: rs121912754
• MyVariant Identifiers: chr17:g.42332660C>G (hg19) ; chr17:g.44255292C>G (hg38)
• PubMed: PMID:15211439

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44255292C>G , CM000679.2:g.44255292C>G	GRCh38
NC_000017.10:g.42332660C>G , CM000679.1:g.42332660C>G	GRCh37
NC_000017.9:g.39688186C>G	NCBI36
NG_007498.1:g.17843G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.1805G>C MANE Select	ENSP00000262418.6:p.Arg602Pro
ENST00000262418.10:c.1805G>C	ENSP00000262418.6:p.Arg602Pro
ENST00000399246.3:c.778-71G>C	ENSP00000382190.3:n.778-71G>C
NM_000342.3:c.1805G>C	NP_000333.1:p.Arg602Pro
XM_005257593.3:c.1610G>C	XP_005257650.1:p.Arg537Pro
XM_011525129.1:c.1800+381G>C	XP_011523431.1:n.1800+381G>C
XM_011525130.1:c.1805G>C	XP_011523432.1:p.Arg602Pro
XM_011525131.1:c.1805G>C	XP_011523433.1:p.Arg602Pro
XM_005257593.5:c.1610G>C	XP_005257650.1:p.Arg537Pro
XM_011525129.2:c.1800+381G>C	XP_011523431.1:n.1800+381G>C
NM_000342.4:c.1805G>C MANE Select	NP_000333.1:p.Arg602Pro