Canonical Allele Identifier: CA1467147859
Gene: SLC4A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71261172C>G , CM000666.2:g.71261172C>G GRCh38
NC_000004.11:g.72126889C>G , CM000666.1:g.72126889C>G GRCh37
NC_000004.10:g.72345753C>G NCBI36
NG_012653.1:g.78887C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698522.1:c.253+5773C>G ENSP00000513771.1:n.253+5773C>G
ENST00000264485.11:c.253+5773C>G MANE Select ENSP00000264485.5:n.253+5773C>G
ENST00000638464.1:c.346+5773C>G ENSP00000492496.1:n.346+5773C>G
ENST00000639096.1:c.358+5773C>G ENSP00000491107.1:n.358+5773C>G
ENST00000649996.1:c.253+5773C>G ENSP00000497468.1:n.253+5773C>G
ENST00000264485.9:c.253+5773C>G ENSP00000264485.5:n.253+5773C>G
ENST00000351898.10:c.253+5773C>G ENSP00000307349.7:n.253+5773C>G
ENST00000425175.5:c.253+5773C>G ENSP00000393557.1:n.253+5773C>G
ENST00000514331.1:n.182+5773C>G
NM_001098484.2:c.253+5773C>G NP_001091954.1:n.253+5773C>G
NM_001134742.1:c.253+5773C>G NP_001128214.1:n.253+5773C>G
XM_024454267.1:c.346+5773C>G XP_024310035.1:n.346+5773C>G
XM_024454268.1:c.268+5773C>G XP_024310036.1:n.268+5773C>G
XM_024454269.1:c.268+5773C>G XP_024310037.1:n.268+5773C>G
XM_024454270.1:c.253+5773C>G XP_024310038.1:n.253+5773C>G
XM_024454271.1:c.253+5773C>G XP_024310039.1:n.253+5773C>G
XM_024454272.1:c.253+5773C>G XP_024310040.1:n.253+5773C>G
NM_001098484.3:c.253+5773C>G MANE Select NP_001091954.1:n.253+5773C>G
NM_001134742.2:c.253+5773C>G NP_001128214.1:n.253+5773C>G