Canonical Allele Identifier: CA399783568

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1470668954
• gnomAD v2: 17-42332021-C-A
• MyVariant Identifiers: chr17:g.42332021C>A (hg19) ; chr17:g.44254653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254653C>A , CM000679.2:g.44254653C>A	GRCh38
NC_000017.10:g.42332021C>A , CM000679.1:g.42332021C>A	GRCh37
NC_000017.9:g.39687547C>A	NCBI36
NG_007498.1:g.18482G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1900G>T MANE Select	ENSP00000262418.6:p.Val634Leu
ENST00000262418.10:c.1900G>T	ENSP00000262418.6:p.Val634Leu
ENST00000399246.3:c.802G>T	ENSP00000382190.3:p.Val268Leu
NM_000342.3:c.1900G>T	NP_000333.1:p.Val634Leu
XM_005257593.3:c.1705G>T	XP_005257650.1:p.Val569Leu
XM_011525129.1:c.1810G>T	XP_011523431.1:p.Val604Leu
XM_011525130.1:c.1900G>T	XP_011523432.1:p.Val634Leu
XM_011525131.1:c.1900G>T	XP_011523433.1:p.Val634Leu
XM_005257593.5:c.1705G>T	XP_005257650.1:p.Val569Leu
XM_011525129.2:c.1810G>T	XP_011523431.1:p.Val604Leu
NM_000342.4:c.1900G>T MANE Select	NP_000333.1:p.Val634Leu