Canonical Allele Identifier: CA290928018

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1026465841
• gnomAD v3: 17-44254136-G-A
• gnomAD v4: 17-44254136-G-A
• MyVariant Identifiers: chr17:g.42331504G>A (hg19) ; chr17:g.44254136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254136G>A , CM000679.2:g.44254136G>A	GRCh38
NC_000017.10:g.42331504G>A , CM000679.1:g.42331504G>A	GRCh37
NC_000017.9:g.39687030G>A	NCBI36
NG_007498.1:g.18999C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+360C>T MANE Select	ENSP00000262418.6:n.2057+360C>T
ENST00000262418.10:c.2057+360C>T	ENSP00000262418.6:n.2057+360C>T
ENST00000399246.3:c.959+360C>T	ENSP00000382190.3:n.959+360C>T
NM_000342.3:c.2057+360C>T	NP_000333.1:n.2057+360C>T
XM_005257593.3:c.1862+360C>T	XP_005257650.1:n.1862+360C>T
XM_011525129.1:c.1967+360C>T	XP_011523431.1:n.1967+360C>T
XM_011525130.1:c.2057+360C>T	XP_011523432.1:n.2057+360C>T
XM_011525131.1:c.2058-328C>T	XP_011523433.1:n.2058-328C>T
XM_005257593.5:c.1862+360C>T	XP_005257650.1:n.1862+360C>T
XM_011525129.2:c.1967+360C>T	XP_011523431.1:n.1967+360C>T
NM_000342.4:c.2057+360C>T MANE Select	NP_000333.1:n.2057+360C>T