Canonical Allele Identifier: CA399795235

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44260506-A-G
• MyVariant Identifiers: chr17:g.42337874A>G (hg19) ; chr17:g.44260506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260506A>G , CM000679.2:g.44260506A>G	GRCh38
NC_000017.10:g.42337874A>G , CM000679.1:g.42337874A>G	GRCh37
NC_000017.9:g.39693400A>G	NCBI36
NG_007498.1:g.12629T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.383T>C MANE Select	ENSP00000262418.6:p.Leu128Pro
ENST00000262418.10:c.383T>C	ENSP00000262418.6:p.Leu128Pro
ENST00000399246.3:c.383T>C	ENSP00000382190.3:p.Leu128Pro
ENST00000471005.5:n.317T>C
ENST00000497360.5:n.522T>C
NM_000342.3:c.383T>C	NP_000333.1:p.Leu128Pro
XM_005257593.3:c.188T>C	XP_005257650.1:p.Leu63Pro
XM_011525129.1:c.383T>C	XP_011523431.1:p.Leu128Pro
XM_011525130.1:c.383T>C	XP_011523432.1:p.Leu128Pro
XM_011525131.1:c.383T>C	XP_011523433.1:p.Leu128Pro
XM_005257593.5:c.188T>C	XP_005257650.1:p.Leu63Pro
XM_011525129.2:c.383T>C	XP_011523431.1:p.Leu128Pro
NM_000342.4:c.383T>C MANE Select	NP_000333.1:p.Leu128Pro